Canonical Allele Identifier: CA363321875
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270357-G-C
gnomAD v4: 6-31270357-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270357G>C , CM000668.2:g.31270357G>C GRCh38
NC_000006.11:g.31238134G>C , CM000668.1:g.31238134G>C GRCh37
NC_000006.10:g.31346113G>C NCBI36
NG_029422.2:g.6775C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.748C>G MANE Select ENSP00000365402.5:p.Gln250Glu
ENST00000376228.9:c.748C>G ENSP00000365402.5:p.Gln250Glu
ENST00000376237.8:c.*335C>G ENSP00000365412.4:n.*335C>G
ENST00000383329.7:c.748C>G ENSP00000372819.3:p.Gln250Glu
ENST00000415537.1:c.665-26C>G
ENST00000470363.5:n.66C>G
ENST00000487245.5:n.1107C>G
ENST00000495835.1:n.937C>G
NM_002117.5:c.748C>G NP_002108.4:p.Gln250Glu
NM_002117.6:c.748C>G MANE Select NP_002108.4:p.Gln250Glu