Canonical Allele Identifier: CA363322716
Gene: HLA-C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31270453G>A
GRCh37 chr6:g.31238230G>A
Revel Score:
ENST00000376228 (MANE Select) 0.061
ENST00000383329 0.061
ENST00000396254 0.061
ENST00000539307 0.061
ENST00000415537 0.016
dbSNP:
1050716
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270453G>A , CM000668.2:g.31270453G>A GRCh38
NC_000006.11:g.31238230G>A , CM000668.1:g.31238230G>A GRCh37
NC_000006.10:g.31346209G>A NCBI36
NG_029422.2:g.6679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.652C>T MANE Select ENSP00000365402.5:p.Leu218Phe
ENST00000376228.9:c.652C>T ENSP00000365402.5:p.Leu218Phe
ENST00000376237.8:c.*239C>T ENSP00000365412.4:n.*239C>T
ENST00000383329.7:c.652C>T ENSP00000372819.3:p.Leu218Phe
ENST00000415537.1:c.650C>T
ENST00000487245.5:n.1011C>T
ENST00000495835.1:n.841C>T
NM_002117.5:c.652C>T NP_002108.4:p.Leu218Phe
NM_002117.6:c.652C>T MANE Select NP_002108.4:p.Leu218Phe
Search 100 bp 5'
Search 100 bp 3'