SNP Links for Protein (Select 301898721) - SNP

Links from Protein

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Select item 14827556431.

rs1482755643 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:86510403 (GRCh38)
2:86737526 (GRCh37)
Canonical SPDI:: NC_000002.12:86510402:TG:
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86510403_86510404del, NC_000002.11:g.86737526_86737527del, NM_016079.4:c.362_363del, NM_016079.3:c.362_363del, NM_001005753.3:c.164_165del, NM_001005753.2:c.164_165del, NM_001193517.2:c.242_243del, NM_001193517.1:c.242_243del, NR_036454.2:n.216_217del, NR_036454.1:n.270_271del, NM_001198954.1:c.449_450del, NP_057163.1:p.Pro121fs, NP_001005753.1:p.Pro55fs, NP_001180446.1:p.Pro81fs, NP_001185883.1:p.Pro150fs

Select item 14816804052.

rs1481680405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:86507559 (GRCh38)
2:86734682 (GRCh37)
Canonical SPDI:: NC_000002.12:86507558:A:G
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86507559A>G, NC_000002.11:g.86734682A>G, NM_016079.4:c.443T>C, NM_016079.3:c.443T>C, NM_001005753.3:c.245T>C, NM_001005753.2:c.245T>C, NM_001193517.2:c.323T>C, NM_001193517.1:c.323T>C, NR_036454.2:n.297T>C, NR_036454.1:n.351T>C, NM_001198954.1:c.530T>C, NP_057163.1:p.Phe148Ser, NP_001005753.1:p.Phe82Ser, NP_001180446.1:p.Phe108Ser, NP_001185883.1:p.Phe177Ser

Select item 14802499513.

rs1480249951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86505849 (GRCh38)
2:86732972 (GRCh37)
Canonical SPDI:: NC_000002.12:86505848:C:T
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000073/3 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.86505849C>T, NC_000002.11:g.86732972C>T, NM_016079.4:c.624G>A, NM_016079.3:c.624G>A, NM_001005753.3:c.426G>A, NM_001005753.2:c.426G>A, NM_001193517.2:c.504G>A, NM_001193517.1:c.504G>A, NR_036454.2:n.478G>A, NR_036454.1:n.532G>A, NM_001198954.1:c.711G>A

Select item 14798728954.

rs1479872895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86529314 (GRCh38)
2:86756437 (GRCh37)
Canonical SPDI:: NC_000002.12:86529313:C:T
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86529314C>T, NC_000002.11:g.86756437C>T, NM_016079.4:c.190G>A, NM_016079.3:c.190G>A, NM_001005753.3:c.-9G>A, NM_001005753.2:c.-9G>A, NM_001193517.2:c.190G>A, NM_001193517.1:c.190G>A, NM_001198954.1:c.277G>A, NP_057163.1:p.Ala64Thr, NP_001180446.1:p.Ala64Thr, NP_001185883.1:p.Ala93Thr

Select item 14758658715.

rs1475865871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:86529394 (GRCh38)
2:86756517 (GRCh37)
Canonical SPDI:: NC_000002.12:86529393:A:C,NC_000002.12:86529393:A:G
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86529394A>C, NC_000002.12:g.86529394A>G, NC_000002.11:g.86756517A>C, NC_000002.11:g.86756517A>G, NM_016079.4:c.110T>G, NM_016079.4:c.110T>C, NM_016079.3:c.110T>G, NM_016079.3:c.110T>C, NM_001005753.3:c.-89T>G, NM_001005753.3:c.-89T>C, NM_001005753.2:c.-89T>G, NM_001005753.2:c.-89T>C, NM_001193517.2:c.110T>G, NM_001193517.2:c.110T>C, NM_001193517.1:c.110T>G, NM_001193517.1:c.110T>C, NM_001198954.1:c.197T>G, NM_001198954.1:c.197T>C, NP_057163.1:p.Ile37Ser, NP_057163.1:p.Ile37Thr, NP_001180446.1:p.Ile37Ser, NP_001180446.1:p.Ile37Thr, NP_001185883.1:p.Ile66Ser, NP_001185883.1:p.Ile66Thr

Select item 14729460346.

rs1472946034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:86505887 (GRCh38)
2:86733010 (GRCh37)
Canonical SPDI:: NC_000002.12:86505886:C:G
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.86505887C>G, NC_000002.11:g.86733010C>G, NM_016079.4:c.586G>C, NM_016079.3:c.586G>C, NM_001005753.3:c.388G>C, NM_001005753.2:c.388G>C, NM_001193517.2:c.466G>C, NM_001193517.1:c.466G>C, NR_036454.2:n.440G>C, NR_036454.1:n.494G>C, NM_001198954.1:c.673G>C, NP_057163.1:p.Ala196Pro, NP_001005753.1:p.Ala130Pro, NP_001180446.1:p.Ala156Pro, NP_001185883.1:p.Ala225Pro

Select item 14716816547.

rs1471681654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86505940 (GRCh38)
2:86733063 (GRCh37)
Canonical SPDI:: NC_000002.12:86505939:C:T
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.86505940C>T, NC_000002.11:g.86733063C>T, NM_016079.4:c.533G>A, NM_016079.3:c.533G>A, NM_001005753.3:c.335G>A, NM_001005753.2:c.335G>A, NM_001193517.2:c.413G>A, NM_001193517.1:c.413G>A, NR_036454.2:n.387G>A, NR_036454.1:n.441G>A, NM_001198954.1:c.620G>A, NP_057163.1:p.Gly178Asp, NP_001005753.1:p.Gly112Asp, NP_001180446.1:p.Gly138Asp, NP_001185883.1:p.Gly207Asp

Select item 14693346208.

rs1469334620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:86507562 (GRCh38)
2:86734685 (GRCh37)
Canonical SPDI:: NC_000002.12:86507561:G:C
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86507562G>C, NC_000002.11:g.86734685G>C, NM_016079.4:c.440C>G, NM_016079.3:c.440C>G, NM_001005753.3:c.242C>G, NM_001005753.2:c.242C>G, NM_001193517.2:c.320C>G, NM_001193517.1:c.320C>G, NR_036454.2:n.294C>G, NR_036454.1:n.348C>G, NM_001198954.1:c.527C>G, NP_057163.1:p.Thr147Ser, NP_001005753.1:p.Thr81Ser, NP_001180446.1:p.Thr107Ser, NP_001185883.1:p.Thr176Ser

Select item 14681363279.

rs1468136327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:86563327 (GRCh38)
2:86790450 (GRCh37)
Canonical SPDI:: NC_000002.12:86563326:G:C
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86563327G>C, NC_000002.11:g.86790450G>C, NG_061336.1:g.122G>C, NM_016079.4:c.22C>G, NM_016079.3:c.22C>G, NM_001005753.3:c.-116C>G, NM_001005753.2:c.-116C>G, NM_001193517.2:c.22C>G, NM_001193517.1:c.22C>G, NR_036454.2:n.117C>G, NR_036454.1:n.171C>G, NP_057163.1:p.Gln8Glu, NP_001180446.1:p.Gln8Glu

Select item 146590366910.

rs1465903669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86505881 (GRCh38)
2:86733004 (GRCh37)
Canonical SPDI:: NC_000002.12:86505880:C:T
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.86505881C>T, NC_000002.11:g.86733004C>T, NM_016079.4:c.592G>A, NM_016079.3:c.592G>A, NM_001005753.3:c.394G>A, NM_001005753.2:c.394G>A, NM_001193517.2:c.472G>A, NM_001193517.1:c.472G>A, NR_036454.2:n.446G>A, NR_036454.1:n.500G>A, NM_001198954.1:c.679G>A, NP_057163.1:p.Ala198Thr, NP_001005753.1:p.Ala132Thr, NP_001180446.1:p.Ala158Thr, NP_001185883.1:p.Ala227Thr

Select item 146217783511.

rs1462177835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:86507571 (GRCh38)
2:86734694 (GRCh37)
Canonical SPDI:: NC_000002.12:86507570:A:G
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86507571A>G, NC_000002.11:g.86734694A>G, NM_016079.4:c.431T>C, NM_016079.3:c.431T>C, NM_001005753.3:c.233T>C, NM_001005753.2:c.233T>C, NM_001193517.2:c.311T>C, NM_001193517.1:c.311T>C, NR_036454.2:n.285T>C, NR_036454.1:n.339T>C, NM_001198954.1:c.518T>C, NP_057163.1:p.Leu144Ser, NP_001005753.1:p.Leu78Ser, NP_001180446.1:p.Leu104Ser, NP_001185883.1:p.Leu173Ser

Select item 144629829412.

rs1446298294 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:86542255 (GRCh38)
2:86769378 (GRCh37)
Canonical SPDI:: NC_000002.12:86542254:TT:T
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86542256del, NC_000002.11:g.86769379del, NM_016079.4:c.103del, NM_016079.3:c.103del, NM_001193517.2:c.103del, NM_001193517.1:c.103del, NM_001198954.1:c.190del, NP_057163.1:p.Arg35fs, NP_001180446.1:p.Arg35fs, NP_001185883.1:p.Arg64fs

Select item 143242434213.

rs1432424342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:86505814 (GRCh38)
2:86732937 (GRCh37)
Canonical SPDI:: NC_000002.12:86505813:A:C
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000212/4 (TOMMO)
HGVS:: NC_000002.12:g.86505814A>C, NC_000002.11:g.86732937A>C, NM_016079.4:c.659T>G, NM_016079.3:c.659T>G, NM_001005753.3:c.461T>G, NM_001005753.2:c.461T>G, NM_001193517.2:c.539T>G, NM_001193517.1:c.539T>G, NR_036454.2:n.513T>G, NR_036454.1:n.567T>G, NM_001198954.1:c.746T>G, NP_057163.1:p.Leu220Arg, NP_001005753.1:p.Leu154Arg, NP_001180446.1:p.Leu180Arg, NP_001185883.1:p.Leu249Arg

Select item 143053820314.

rs1430538203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:86542300 (GRCh38)
2:86769423 (GRCh37)
Canonical SPDI:: NC_000002.12:86542299:A:G
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86542300A>G, NC_000002.11:g.86769423A>G, NM_016079.4:c.58T>C, NM_016079.3:c.58T>C, NM_001193517.2:c.58T>C, NM_001193517.1:c.58T>C, NM_001198954.1:c.145T>C, NP_057163.1:p.Ser20Pro, NP_001180446.1:p.Ser20Pro, NP_001185883.1:p.Ser49Pro

Select item 142523093615.

rs1425230936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86563324 (GRCh38)
2:86790447 (GRCh37)
Canonical SPDI:: NC_000002.12:86563323:C:T
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86563324C>T, NC_000002.11:g.86790447C>T, NG_061336.1:g.119C>T, NM_016079.4:c.25G>A, NM_016079.3:c.25G>A, NM_001005753.3:c.-113G>A, NM_001005753.2:c.-113G>A, NM_001193517.2:c.25G>A, NM_001193517.1:c.25G>A, NR_036454.2:n.120G>A, NR_036454.1:n.174G>A, NP_057163.1:p.Glu9Lys, NP_001180446.1:p.Glu9Lys

Select item 140675706616.

rs1406757066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:86563333 (GRCh38)
2:86790456 (GRCh37)
Canonical SPDI:: NC_000002.12:86563332:T:C
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86563333T>C, NC_000002.11:g.86790456T>C, NG_061336.1:g.128T>C, NM_016079.4:c.16A>G, NM_016079.3:c.16A>G, NM_001005753.3:c.-122A>G, NM_001005753.2:c.-122A>G, NM_001193517.2:c.16A>G, NM_001193517.1:c.16A>G, NR_036454.2:n.111A>G, NR_036454.1:n.165A>G, NP_057163.1:p.Lys6Glu, NP_001180446.1:p.Lys6Glu

Select item 139055504417.

rs1390555044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:86529376 (GRCh38)
2:86756499 (GRCh37)
Canonical SPDI:: NC_000002.12:86529375:T:C
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.86529376T>C, NC_000002.11:g.86756499T>C, NM_016079.4:c.128A>G, NM_016079.3:c.128A>G, NM_001005753.3:c.-71A>G, NM_001005753.2:c.-71A>G, NM_001193517.2:c.128A>G, NM_001193517.1:c.128A>G, NM_001198954.1:c.215A>G, NP_057163.1:p.Lys43Arg, NP_001180446.1:p.Lys43Arg, NP_001185883.1:p.Lys72Arg

Select item 138611060718.

rs1386110607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:86505865 (GRCh38)
2:86732988 (GRCh37)
Canonical SPDI:: NC_000002.12:86505864:T:A
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86505865T>A, NC_000002.11:g.86732988T>A, NM_016079.4:c.608A>T, NM_016079.3:c.608A>T, NM_001005753.3:c.410A>T, NM_001005753.2:c.410A>T, NM_001193517.2:c.488A>T, NM_001193517.1:c.488A>T, NR_036454.2:n.462A>T, NR_036454.1:n.516A>T, NM_001198954.1:c.695A>T, NP_057163.1:p.Glu203Val, NP_001005753.1:p.Glu137Val, NP_001180446.1:p.Glu163Val, NP_001185883.1:p.Glu232Val

Select item 138346993819.

rs1383469938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:86507519 (GRCh38)
2:86734642 (GRCh37)
Canonical SPDI:: NC_000002.12:86507518:T:C
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.86507519T>C, NC_000002.11:g.86734642T>C, NM_016079.4:c.483A>G, NM_016079.3:c.483A>G, NM_001005753.3:c.285A>G, NM_001005753.2:c.285A>G, NM_001193517.2:c.363A>G, NM_001193517.1:c.363A>G, NR_036454.2:n.337A>G, NR_036454.1:n.391A>G, NM_001198954.1:c.570A>G

Select item 138299716220.

rs1382997162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:86563344 (GRCh38)
2:86790467 (GRCh37)
Canonical SPDI:: NC_000002.12:86563343:C:G,NC_000002.12:86563343:C:T
Gene:: CHMP3 (Varview), RNF103-CHMP3 (Varview), CHMP3-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.86563344C>G, NC_000002.12:g.86563344C>T, NC_000002.11:g.86790467C>G, NC_000002.11:g.86790467C>T, NG_061336.1:g.139C>G, NG_061336.1:g.139C>T, NM_016079.4:c.5G>C, NM_016079.4:c.5G>A, NM_016079.3:c.5G>C, NM_016079.3:c.5G>A, NM_001005753.3:c.-133G>C, NM_001005753.3:c.-133G>A, NM_001005753.2:c.-133G>C, NM_001005753.2:c.-133G>A, NM_001193517.2:c.5G>C, NM_001193517.2:c.5G>A, NM_001193517.1:c.5G>C, NM_001193517.1:c.5G>A, NR_036454.2:n.100G>C, NR_036454.2:n.100G>A, NR_036454.1:n.154G>C, NR_036454.1:n.154G>A, NP_057163.1:p.Gly2Ala, NP_057163.1:p.Gly2Glu, NP_001180446.1:p.Gly2Ala, NP_001180446.1:p.Gly2Glu

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