Canonical Allele Identifier: CA8587674
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323363
ClinVar RCV Id: RCV000277431
dbSNP Id: rs774448424
ExAC: 17:41063291 G / A
gnomAD v2: 17-41063291-G-A
gnomAD v3: 17-42911274-G-A
gnomAD v4: 17-42911274-G-A
COSMIC: COSM1610291
MyVariant Identifiers: chr17:g.41063291G>A (hg19) chr17:g.42911274G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911274G>A , CM000679.2:g.42911274G>A GRCh38
NC_000017.10:g.41063291G>A , CM000679.1:g.41063291G>A GRCh37
NC_000017.9:g.38316817G>A NCBI36
NG_011808.1:g.15477G>A , LRG_147:g.15477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.922G>A MANE Select ENSP00000253801.1:p.Val308Ile
ENST00000253801.6:c.922G>A ENSP00000253801.1:p.Val308Ile
ENST00000585489.1:c.*314G>A ENSP00000466202.1:n.*314G>A
ENST00000592383.5:c.*314G>A ENSP00000465958.1:n.*314G>A
NM_000151.3:c.922G>A NP_000142.2:p.Val308Ile
NM_001270397.1:c.*314G>A NP_001257326.1:n.*314G>A
NM_000151.4:c.922G>A MANE Select NP_000142.2:p.Val308Ile
NM_001270397.2:c.*314G>A NP_001257326.1:n.*314G>A
Search 100 bp 5'
Search 100 bp 3'