Canonical Allele Identifier: CA363319471

Gene: HLA-C

Linked Data

• dbSNP Id: rs1761130760
• gnomAD v3: 6-31269520-T-C
• gnomAD v4: 6-31269520-T-C
• MyVariant Identifiers: chr6:g.31237297T>C (hg19) ; chr6:g.31269520T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269520T>C , CM000668.2:g.31269520T>C	GRCh38
NC_000006.11:g.31237297T>C , CM000668.1:g.31237297T>C	GRCh37
NC_000006.10:g.31345276T>C	NCBI36
NG_029422.2:g.7612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1021A>G MANE Select	ENSP00000365402.5:p.Lys341Glu
ENST00000376228.9:c.1021A>G	ENSP00000365402.5:p.Lys341Glu
ENST00000376237.8:c.*608A>G	ENSP00000365412.4:n.*608A>G
ENST00000383329.7:c.1039A>G	ENSP00000372819.3:p.Lys347Glu
ENST00000466892.5:n.147A>G
ENST00000470363.5:n.779A>G
ENST00000487245.5:n.1380A>G
NM_002117.5:c.1021A>G	NP_002108.4:p.Lys341Glu
NM_002117.6:c.1021A>G MANE Select	NP_002108.4:p.Lys341Glu