Canonical Allele Identifier: CA449790330
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41560918
gnomAD v2: 6-31238938-C-A
gnomAD v3: 6-31271161-C-A
gnomAD v4: 6-31271161-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271161C>A , CM000668.2:g.31271161C>A GRCh38
NC_000006.11:g.31238938C>A , CM000668.1:g.31238938C>A GRCh37
NC_000006.10:g.31346917C>A NCBI36
NG_029422.2:g.5971G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.531G>T MANE Select ENSP00000365402.5:p.Ala177=
ENST00000376228.9:c.531G>T ENSP00000365402.5:p.Ala177=
ENST00000376237.8:c.*118G>T ENSP00000365412.4:n.*118G>T
ENST00000383329.7:c.531G>T ENSP00000372819.3:p.Ala177=
ENST00000415537.1:c.529G>T
ENST00000484378.1:n.800G>T
ENST00000487245.5:n.890G>T
ENST00000495835.1:n.720G>T
NM_002117.5:c.531G>T NP_002108.4:p.Ala177=
NM_002117.6:c.531G>T MANE Select NP_002108.4:p.Ala177=