Canonical Allele Identifier: CA3710699
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2308592
gnomAD v2: 6-31238930-A-C
gnomAD v3: 6-31271153-A-C
gnomAD v4: 6-31271153-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271153A>C , CM000668.2:g.31271153A>C GRCh38
NC_000006.11:g.31238930A>C , CM000668.1:g.31238930A>C GRCh37
NC_000006.10:g.31346909A>C NCBI36
NG_029422.2:g.5979T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.539T>G MANE Select ENSP00000365402.5:p.Leu180Arg
ENST00000376228.9:c.539T>G ENSP00000365402.5:p.Leu180Arg
ENST00000376237.8:c.*126T>G ENSP00000365412.4:n.*126T>G
ENST00000383329.7:c.539T>G ENSP00000372819.3:p.Leu180Arg
ENST00000415537.1:c.537T>G
ENST00000484378.1:n.808T>G
ENST00000487245.5:n.898T>G
ENST00000495835.1:n.728T>G
NM_002117.5:c.539T>G NP_002108.4:p.Leu180Arg
NM_002117.6:c.539T>G MANE Select NP_002108.4:p.Leu180Arg