Canonical Allele Identifier: CA449790350

Gene: HLA-C

Linked Data

• dbSNP Id: rs1323498643
• gnomAD v3: 6-31270298-T-C
• gnomAD v4: 6-31270298-T-C
• MyVariant Identifiers: chr6:g.31238075T>C (hg19) ; chr6:g.31270298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270298T>C , CM000668.2:g.31270298T>C	GRCh38
NC_000006.11:g.31238075T>C , CM000668.1:g.31238075T>C	GRCh37
NC_000006.10:g.31346054T>C	NCBI36
NG_029422.2:g.6834A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.807A>G MANE Select	ENSP00000365402.5:p.Ala269=
ENST00000376228.9:c.807A>G	ENSP00000365402.5:p.Ala269=
ENST00000376237.8:c.*394A>G	ENSP00000365412.4:n.*394A>G
ENST00000383329.7:c.807A>G	ENSP00000372819.3:p.Ala269=
ENST00000415537.1:c.698A>G
ENST00000470363.5:n.125A>G
ENST00000487245.5:n.1166A>G
ENST00000495835.1:n.996A>G
NM_002117.5:c.807A>G	NP_002108.4:p.Ala269=
NM_002117.6:c.807A>G MANE Select	NP_002108.4:p.Ala269=