Canonical Allele Identifier: CA363319288

Gene: HLA-C

Linked Data

• dbSNP Id: rs1761119082
• gnomAD v4: 6-31269364-G-A
• MyVariant Identifiers: chr6:g.31237141G>A (hg19) ; chr6:g.31269364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269364G>A , CM000668.2:g.31269364G>A	GRCh38
NC_000006.11:g.31237141G>A , CM000668.1:g.31237141G>A	GRCh37
NC_000006.10:g.31345120G>A	NCBI36
NG_029422.2:g.7768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1070C>T MANE Select	ENSP00000365402.5:p.Ser357Phe
ENST00000376228.9:c.1070C>T	ENSP00000365402.5:p.Ser357Phe
ENST00000376237.8:c.*657C>T	ENSP00000365412.4:n.*657C>T
ENST00000383329.7:c.1088C>T	ENSP00000372819.3:p.Ser363Phe
ENST00000466892.5:n.303C>T
ENST00000470363.5:n.828C>T
ENST00000487245.5:n.1429C>T
NM_002117.5:c.1070C>T	NP_002108.4:p.Ser357Phe
NM_002117.6:c.1070C>T MANE Select	NP_002108.4:p.Ser357Phe