Canonical Allele Identifier: CA136866788

Gene: HLA-C

Linked Data

• dbSNP Id: rs697743
• gnomAD v3: 6-31271154-G-T
• gnomAD v4: 6-31271154-G-T
• MyVariant Identifiers: chr6:g.31238931G>T (hg19) ; chr6:g.31271154G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271154G>T , CM000668.2:g.31271154G>T	GRCh38
NC_000006.11:g.31238931G>T , CM000668.1:g.31238931G>T	GRCh37
NC_000006.10:g.31346910G>T	NCBI36
NG_029422.2:g.5978C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.538C>A MANE Select	ENSP00000365402.5:p.Leu180Met
ENST00000376228.9:c.538C>A	ENSP00000365402.5:p.Leu180Met
ENST00000376237.8:c.*125C>A	ENSP00000365412.4:n.*125C>A
ENST00000383329.7:c.538C>A	ENSP00000372819.3:p.Leu180Met
ENST00000415537.1:c.536C>A
ENST00000484378.1:n.807C>A
ENST00000487245.5:n.897C>A
ENST00000495835.1:n.727C>A
NM_002117.5:c.538C>A	NP_002108.4:p.Leu180Met
NM_002117.6:c.538C>A MANE Select	NP_002108.4:p.Leu180Met