Canonical Allele Identifier: CA363320508

Gene: HLA-C

Linked Data

• dbSNP Id: rs778342450
• gnomAD v3: 6-31270257-C-G
• gnomAD v4: 6-31270257-C-G
• MyVariant Identifiers: chr6:g.31238034C>G (hg19) ; chr6:g.31270257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270257C>G , CM000668.2:g.31270257C>G	GRCh38
NC_000006.11:g.31238034C>G , CM000668.1:g.31238034C>G	GRCh37
NC_000006.10:g.31346013C>G	NCBI36
NG_029422.2:g.6875G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.848G>C MANE Select	ENSP00000365402.5:p.Cys283Ser
ENST00000376228.9:c.848G>C	ENSP00000365402.5:p.Cys283Ser
ENST00000376237.8:c.*435G>C	ENSP00000365412.4:n.*435G>C
ENST00000383329.7:c.848G>C	ENSP00000372819.3:p.Cys283Ser
ENST00000415537.1:c.739G>C
ENST00000470363.5:n.166G>C
ENST00000487245.5:n.1207G>C
ENST00000495835.1:n.1037G>C
NM_002117.5:c.848G>C	NP_002108.4:p.Cys283Ser
NM_002117.6:c.848G>C MANE Select	NP_002108.4:p.Cys283Ser