Canonical Allele Identifier: CA363319533
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1356183640
gnomAD v2: 6-31237742-C-A
gnomAD v3: 6-31269965-C-A
gnomAD v4: 6-31269965-C-A

Genomic Alleles

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

Transcript Alleles

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