Canonical Allele Identifier: CA449790141
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271083-C-G
gnomAD v4: 6-31271083-C-G
MyVariant Identifiers: chr6:g.31238860C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271083C>G , CM000668.2:g.31271083C>G GRCh38
NC_000006.11:g.31238860C>G , CM000668.1:g.31238860C>G GRCh37
NC_000006.10:g.31346839C>G NCBI36
NG_029422.2:g.6049G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.609G>C MANE Select ENSP00000365402.5:p.Leu203=
ENST00000376228.9:c.609G>C ENSP00000365402.5:p.Leu203=
ENST00000376237.8:c.*196G>C ENSP00000365412.4:n.*196G>C
ENST00000383329.7:c.609G>C ENSP00000372819.3:p.Leu203=
ENST00000415537.1:c.607G>C
ENST00000487245.5:n.968G>C
ENST00000495835.1:n.798G>C
NM_002117.5:c.609G>C NP_002108.4:p.Leu203=
NM_002117.6:c.609G>C MANE Select NP_002108.4:p.Leu203=