Canonical Allele Identifier: CA1087424920

Gene: HLA-C

Linked Data

• dbSNP Id: rs2113908048
• gnomAD v3: 6-31270776-G-A
• gnomAD v4: 6-31270776-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270776G>A , CM000668.2:g.31270776G>A	GRCh38
NC_000006.11:g.31238553G>A , CM000668.1:g.31238553G>A	GRCh37
NC_000006.10:g.31346532G>A	NCBI36
NG_029422.2:g.6356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.620-291C>T MANE Select	ENSP00000365402.5:n.620-291C>T
ENST00000376228.9:c.620-291C>T	ENSP00000365402.5:n.620-291C>T
ENST00000376237.8:c.*207-291C>T	ENSP00000365412.4:n.*207-291C>T
ENST00000383329.7:c.620-291C>T	ENSP00000372819.3:n.620-291C>T
ENST00000415537.1:c.618-291C>T
ENST00000487245.5:n.979-291C>T
ENST00000495835.1:n.809-291C>T
NM_002117.5:c.620-291C>T	NP_002108.4:n.620-291C>T
NM_002117.6:c.620-291C>T MANE Select	NP_002108.4:n.620-291C>T