Canonical Allele Identifier: CA449790468
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2113913466
gnomAD v4: 6-31271636-C-G
MyVariant Identifiers: chr6:g.31239413C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271636C>G , CM000668.2:g.31271636C>G GRCh38
NC_000006.11:g.31239413C>G , CM000668.1:g.31239413C>G GRCh37
NC_000006.10:g.31347392C>G NCBI36
NG_029422.2:g.5496G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.306G>C MANE Select ENSP00000365402.5:p.Leu102=
ENST00000376228.9:c.306G>C ENSP00000365402.5:p.Leu102=
ENST00000376237.8:c.306G>C ENSP00000365412.4:p.Leu102=
ENST00000383329.7:c.306G>C ENSP00000372819.3:p.Leu102=
ENST00000415537.1:c.304G>C
ENST00000484378.1:n.325G>C
ENST00000487245.5:n.415G>C
ENST00000495835.1:n.495G>C
NM_002117.5:c.306G>C NP_002108.4:p.Leu102=
NM_002117.6:c.306G>C MANE Select NP_002108.4:p.Leu102=