Canonical Allele Identifier: CA3710745
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1050373
gnomAD v2: 6-31239016-G-A
gnomAD v3: 6-31271239-G-A
gnomAD v4: 6-31271239-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271239G>A , CM000668.2:g.31271239G>A GRCh38
NC_000006.11:g.31239016G>A , CM000668.1:g.31239016G>A GRCh37
NC_000006.10:g.31346995G>A NCBI36
NG_029422.2:g.5893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.453C>T MANE Select ENSP00000365402.5:p.Asn151=
ENST00000376228.9:c.453C>T ENSP00000365402.5:p.Asn151=
ENST00000376237.8:c.*40C>T ENSP00000365412.4:n.*40C>T
ENST00000383329.7:c.453C>T ENSP00000372819.3:p.Asn151=
ENST00000415537.1:c.451C>T
ENST00000484378.1:n.722C>T
ENST00000487245.5:n.812C>T
ENST00000495835.1:n.642C>T
NM_002117.5:c.453C>T NP_002108.4:p.Asn151=
NM_002117.6:c.453C>T MANE Select NP_002108.4:p.Asn151=