Canonical Allele Identifier: CA363321882

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270357-G-T
• gnomAD v4: 6-31270357-G-T
• MyVariant Identifiers: chr6:g.31238134G>T (hg19) ; chr6:g.31270357G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.748C>A MANE Select	ENSP00000365402.5:p.Gln250Lys
ENST00000376228.9:c.748C>A	ENSP00000365402.5:p.Gln250Lys
ENST00000376237.8:c.*335C>A	ENSP00000365412.4:n.*335C>A
ENST00000383329.7:c.748C>A	ENSP00000372819.3:p.Gln250Lys
ENST00000415537.1:c.665-26C>A
ENST00000470363.5:n.66C>A
ENST00000487245.5:n.1107C>A
ENST00000495835.1:n.937C>A
NM_002117.5:c.748C>A	NP_002108.4:p.Gln250Lys
NM_002117.6:c.748C>A MANE Select	NP_002108.4:p.Gln250Lys