Canonical Allele Identifier: CA449609762
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs568718965
gnomAD v3: 6-31269512-C-A
gnomAD v4: 6-31269512-C-A
MyVariant Identifiers: chr6:g.31237289C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269512C>A , CM000668.2:g.31269512C>A GRCh38
NC_000006.11:g.31237289C>A , CM000668.1:g.31237289C>A GRCh37
NC_000006.10:g.31345268C>A NCBI36
NG_029422.2:g.7620G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1029G>T MANE Select ENSP00000365402.5:p.Gly343=
ENST00000376228.9:c.1029G>T ENSP00000365402.5:p.Gly343=
ENST00000376237.8:c.*616G>T ENSP00000365412.4:n.*616G>T
ENST00000383329.7:c.1047G>T ENSP00000372819.3:p.Gly349=
ENST00000466892.5:n.155G>T
ENST00000470363.5:n.787G>T
ENST00000487245.5:n.1388G>T
NM_002117.5:c.1029G>T NP_002108.4:p.Gly343=
NM_002117.6:c.1029G>T MANE Select NP_002108.4:p.Gly343=