Canonical Allele Identifier: CA566688928
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1280489759
gnomAD v2: 6-31237671-C-G
gnomAD v3: 6-31269894-C-G
gnomAD v4: 6-31269894-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269894C>G , CM000668.2:g.31269894C>G GRCh38
NC_000006.11:g.31237671C>G , CM000668.1:g.31237671C>G GRCh37
NC_000006.10:g.31345650C>G NCBI36
NG_029422.2:g.7238G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.1015+72G>C MANE Select ENSP00000365402.5:n.1015+72G>C
ENST00000376228.9:c.1015+72G>C ENSP00000365402.5:n.1015+72G>C
ENST00000376237.8:c.*602+72G>C ENSP00000365412.4:n.*602+72G>C
ENST00000383329.7:c.1015+72G>C ENSP00000372819.3:n.1015+72G>C
ENST00000470363.5:n.405G>C
ENST00000487245.5:n.1374+72G>C
NM_002117.5:c.1015+72G>C NP_002108.4:n.1015+72G>C
NM_002117.6:c.1015+72G>C MANE Select NP_002108.4:n.1015+72G>C