Canonical Allele Identifier: CA363319535
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1356183640
gnomAD v2: 6-31237742-C-T
gnomAD v4: 6-31269965-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269965C>T , CM000668.2:g.31269965C>T GRCh38
NC_000006.11:g.31237742C>T , CM000668.1:g.31237742C>T GRCh37
NC_000006.10:g.31345721C>T NCBI36
NG_029422.2:g.7167G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1015+1G>A MANE Select ENSP00000365402.5:n.1015+1G>A
ENST00000376228.9:c.1015+1G>A ENSP00000365402.5:n.1015+1G>A
ENST00000376237.8:c.*602+1G>A ENSP00000365412.4:n.*602+1G>A
ENST00000383329.7:c.1015+1G>A ENSP00000372819.3:n.1015+1G>A
ENST00000470363.5:n.334G>A
ENST00000487245.5:n.1374+1G>A
NM_002117.5:c.1015+1G>A NP_002108.4:n.1015+1G>A
NM_002117.6:c.1015+1G>A MANE Select NP_002108.4:n.1015+1G>A