Canonical Allele Identifier: CA3710377
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs200704360
ExAC: 6:31237817 C / A
gnomAD v2: 6-31237817-C-A
gnomAD v3: 6-31270040-C-A
gnomAD v4: 6-31270040-C-A
COSMIC: COSM3366450 COSM3366451 COSM3366452
MyVariant Identifiers: chr6:g.31237817C>A (hg19) chr6:g.31270040C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270040C>A , CM000668.2:g.31270040C>A GRCh38
NC_000006.11:g.31237817C>A , CM000668.1:g.31237817C>A GRCh37
NC_000006.10:g.31345796C>A NCBI36
NG_029422.2:g.7092G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.941G>T MANE Select ENSP00000365402.5:p.Gly314Val
ENST00000376228.9:c.941G>T ENSP00000365402.5:p.Gly314Val
ENST00000376237.8:c.*528G>T ENSP00000365412.4:n.*528G>T
ENST00000383329.7:c.941G>T ENSP00000372819.3:p.Gly314Val
ENST00000470363.5:n.259G>T
ENST00000487245.5:n.1300G>T
NM_002117.5:c.941G>T NP_002108.4:p.Gly314Val
NM_002117.6:c.941G>T MANE Select NP_002108.4:p.Gly314Val
Search 100 bp 5'
Search 100 bp 3'