Canonical Allele Identifier: CA3710775
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs34592426
gnomAD v2: 6-31239090-G-C
gnomAD v3: 6-31271313-G-C
gnomAD v4: 6-31271313-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271313G>C , CM000668.2:g.31271313G>C GRCh38
NC_000006.11:g.31239090G>C , CM000668.1:g.31239090G>C GRCh37
NC_000006.10:g.31347069G>C NCBI36
NG_029422.2:g.5819C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.379C>G MANE Select ENSP00000365402.5:p.Leu127Val
ENST00000376228.9:c.379C>G ENSP00000365402.5:p.Leu127Val
ENST00000376237.8:c.362C>G ENSP00000365412.4:p.Pro121Arg
ENST00000383329.7:c.379C>G ENSP00000372819.3:p.Leu127Val
ENST00000415537.1:c.377C>G
ENST00000484378.1:n.648C>G
ENST00000487245.5:n.738C>G
ENST00000495835.1:n.568C>G
NM_002117.5:c.379C>G NP_002108.4:p.Leu127Val
NM_002117.6:c.379C>G MANE Select NP_002108.4:p.Leu127Val