Canonical Allele Identifier: CA3710797
Gene: HLA-C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31271337G>A
GRCh37 chr6:g.31239114G>A
Revel Score:
ENST00000376228 (MANE Select) 0.216
ENST00000383329 0.216
ENST00000396254 0.216
ENST00000539307 0.216
ENST00000415537 0.006
gnomAD v2:
6:31239114 G / A
gnomAD v3:
6:31271337 G / A
gnomAD v4:
chr6-31271337-G-A
Joint Max Group AF 0.03737156 (NFE)
Genomes Max Group AF 0.04380862 (NFE)
Exomes Max Group AF 0.03698717 (NFE)
dbSNP:
1071649
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271337G>A , CM000668.2:g.31271337G>A GRCh38
NC_000006.11:g.31239114G>A , CM000668.1:g.31239114G>A GRCh37
NC_000006.10:g.31347093G>A NCBI36
NG_029422.2:g.5795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.355C>T MANE Select ENSP00000365402.5:p.Leu119Phe
ENST00000376228.9:c.355C>T ENSP00000365402.5:p.Leu119Phe
ENST00000376237.8:c.344-6C>T ENSP00000365412.4:n.344-6C>T
ENST00000383329.7:c.355C>T ENSP00000372819.3:p.Leu119Phe
ENST00000415537.1:c.353C>T
ENST00000484378.1:n.624C>T
ENST00000487245.5:n.714C>T
ENST00000495835.1:n.544C>T
NM_002117.5:c.355C>T NP_002108.4:p.Leu119Phe
NM_002117.6:c.355C>T MANE Select NP_002108.4:p.Leu119Phe
Search 100 bp 5'
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