Canonical Allele Identifier: CA3710661
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41552417
gnomAD v2: 6-31238874-C-T
gnomAD v3: 6-31271097-C-T
gnomAD v4: 6-31271097-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271097C>T , CM000668.2:g.31271097C>T GRCh38
NC_000006.11:g.31238874C>T , CM000668.1:g.31238874C>T GRCh37
NC_000006.10:g.31346853C>T NCBI36
NG_029422.2:g.6035G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.595G>A MANE Select ENSP00000365402.5:p.Gly199Arg
ENST00000376228.9:c.595G>A ENSP00000365402.5:p.Gly199Arg
ENST00000376237.8:c.*182G>A ENSP00000365412.4:n.*182G>A
ENST00000383329.7:c.595G>A ENSP00000372819.3:p.Gly199Arg
ENST00000415537.1:c.593G>A
ENST00000487245.5:n.954G>A
ENST00000495835.1:n.784G>A
NM_002117.5:c.595G>A NP_002108.4:p.Gly199Arg
NM_002117.6:c.595G>A MANE Select NP_002108.4:p.Gly199Arg