Canonical Allele Identifier: CA449790482

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31271248-G-T
• gnomAD v4: 6-31271248-G-T
• MyVariant Identifiers: chr6:g.31239025G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271248G>T , CM000668.2:g.31271248G>T	GRCh38
NC_000006.11:g.31239025G>T , CM000668.1:g.31239025G>T	GRCh37
NC_000006.10:g.31347004G>T	NCBI36
NG_029422.2:g.5884C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.444C>A MANE Select	ENSP00000365402.5:p.Ile148=
ENST00000376228.9:c.444C>A	ENSP00000365402.5:p.Ile148=
ENST00000376237.8:c.*31C>A	ENSP00000365412.4:n.*31C>A
ENST00000383329.7:c.444C>A	ENSP00000372819.3:p.Ile148=
ENST00000415537.1:c.442C>A
ENST00000484378.1:n.713C>A
ENST00000487245.5:n.803C>A
ENST00000495835.1:n.633C>A
NM_002117.5:c.444C>A	NP_002108.4:p.Ile148=
NM_002117.6:c.444C>A MANE Select	NP_002108.4:p.Ile148=