Canonical Allele Identifier: CA363319835

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270064-A-G
• gnomAD v4: 6-31270064-A-G
• MyVariant Identifiers: chr6:g.31237841A>G (hg19) ; chr6:g.31270064A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270064A>G , CM000668.2:g.31270064A>G	GRCh38
NC_000006.11:g.31237841A>G , CM000668.1:g.31237841A>G	GRCh37
NC_000006.10:g.31345820A>G	NCBI36
NG_029422.2:g.7068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.917T>C MANE Select	ENSP00000365402.5:p.Ile306Thr
ENST00000376228.9:c.917T>C	ENSP00000365402.5:p.Ile306Thr
ENST00000376237.8:c.*504T>C	ENSP00000365412.4:n.*504T>C
ENST00000383329.7:c.917T>C	ENSP00000372819.3:p.Ile306Thr
ENST00000470363.5:n.235T>C
ENST00000487245.5:n.1276T>C
NM_002117.5:c.917T>C	NP_002108.4:p.Ile306Thr
NM_002117.6:c.917T>C MANE Select	NP_002108.4:p.Ile306Thr