Canonical Allele Identifier: CA3710785

Gene: HLA-C

Linked Data

• dbSNP Id: rs41556316
• ExAC: 6:31239106 C / G
• gnomAD v2: 6-31239106-C-G
• gnomAD v3: 6-31271329-C-G
• gnomAD v4: 6-31271329-C-G
• COSMIC: COSM3252965 ; COSM3252966 ; COSM3252967
• MyVariant Identifiers: chr6:g.31239106C>G (hg19) ; chr6:g.31271329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271329C>G , CM000668.2:g.31271329C>G	GRCh38
NC_000006.11:g.31239106C>G , CM000668.1:g.31239106C>G	GRCh37
NC_000006.10:g.31347085C>G	NCBI36
NG_029422.2:g.5803G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.363G>C MANE Select	ENSP00000365402.5:p.Arg121Ser
ENST00000376228.9:c.363G>C	ENSP00000365402.5:p.Arg121Ser
ENST00000376237.8:c.346G>C	ENSP00000365412.4:p.Asp116His
ENST00000383329.7:c.363G>C	ENSP00000372819.3:p.Arg121Ser
ENST00000415537.1:c.361G>C
ENST00000484378.1:n.632G>C
ENST00000487245.5:n.722G>C
ENST00000495835.1:n.552G>C
NM_002117.5:c.363G>C	NP_002108.4:p.Arg121Ser
NM_002117.6:c.363G>C MANE Select	NP_002108.4:p.Arg121Ser