Canonical Allele Identifier: CA3710711
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41551019
gnomAD v2: 6-31238946-G-A
gnomAD v3: 6-31271169-G-A
gnomAD v4: 6-31271169-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271169G>A , CM000668.2:g.31271169G>A GRCh38
NC_000006.11:g.31238946G>A , CM000668.1:g.31238946G>A GRCh37
NC_000006.10:g.31346925G>A NCBI36
NG_029422.2:g.5963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.523C>T MANE Select ENSP00000365402.5:p.Arg175Cys
ENST00000376228.9:c.523C>T ENSP00000365402.5:p.Arg175Cys
ENST00000376237.8:c.*110C>T ENSP00000365412.4:n.*110C>T
ENST00000383329.7:c.523C>T ENSP00000372819.3:p.Arg175Cys
ENST00000415537.1:c.521C>T
ENST00000484378.1:n.792C>T
ENST00000487245.5:n.882C>T
ENST00000495835.1:n.712C>T
NM_002117.5:c.523C>T NP_002108.4:p.Arg175Cys
NM_002117.6:c.523C>T MANE Select NP_002108.4:p.Arg175Cys