Canonical Allele Identifier: CA363324321
Gene: HLA-C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31271091C>A
GRCh37 chr6:g.31238868C>A
Revel Score:
ENST00000415537 0.043
gnomAD v3:
6:31271091 C / A
gnomAD v4:
chr6-31271091-C-A
Joint Max Group AF 0.00001163 (SAS)
Exomes Max Group AF 0.00001196 (SAS)
dbSNP:
1131103
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271091C>A , CM000668.2:g.31271091C>A GRCh38
NC_000006.11:g.31238868C>A , CM000668.1:g.31238868C>A GRCh37
NC_000006.10:g.31346847C>A NCBI36
NG_029422.2:g.6041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.601G>T MANE Select ENSP00000365402.5:p.Glu201Ter
ENST00000376228.9:c.601G>T ENSP00000365402.5:p.Glu201Ter
ENST00000376237.8:c.*188G>T ENSP00000365412.4:n.*188G>T
ENST00000383329.7:c.601G>T ENSP00000372819.3:p.Glu201Ter
ENST00000415537.1:c.599G>T
ENST00000487245.5:n.960G>T
ENST00000495835.1:n.790G>T
NM_002117.5:c.601G>T NP_002108.4:p.Glu201Ter
NM_002117.6:c.601G>T MANE Select NP_002108.4:p.Glu201Ter
Search 100 bp 5'
Search 100 bp 3'