ClinVar

NM_000610.4(CD44):c.2215A>C (p.Lys739Gln)

Gene:

CD44:CD44 molecule (IN blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

• Chr11: 35229319 (on Assembly GRCh38)
• Chr11: 35250866 (on Assembly GRCh37)

Preferred name:

NM_000610.4(CD44):c.2215A>C (p.Lys739Gln)

HGVS:

• NC_000011.10:g.35229319A>C
• NG_008937.1:g.95450A>C
• NM_000610.4:c.2215A>CMANE SELECT
• NM_001001389.2:c.2086A>C
• NM_001001390.2:c.1468A>C
• NM_001001391.2:c.1072A>C
• NM_001001392.2:c.*32A>C
• NM_001202555.2:c.1276A>C
• NM_001202556.2:c.1009A>C
• NP_000601.3:p.Lys739Gln
• NP_001001389.1:p.Lys696Gln
• NP_001001390.1:p.Lys490Gln
• NP_001001391.1:p.Lys358Gln
• NP_001189484.1:p.Lys426Gln
• NP_001189485.1:p.Lys337Gln
• LRG_815t1:c.1072A>C
• LRG_815t2:c.2215A>C
• LRG_815:g.95450A>C
• LRG_815p1:p.Lys358Gln
• LRG_815p2:p.Lys739Gln
• NC_000011.9:g.35250866A>C
• NM_000610.3:c.2215A>C

This HGVS expression did not pass validation

Protein change:

K337Q

Molecular consequence:

• NM_001001392.2:c.*32A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000610.4:c.2215A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001389.2:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001390.2:c.1468A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001001391.2:c.1072A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202555.2:c.1276A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202556.2:c.1009A>C - missense variant - [Sequence Ontology: SO:0001583]