Canonical Allele Identifier: CA8587505
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1084143
ClinVar RCV Id: RCV001401061 RCV004037818
dbSNP Id: rs751959283
ExAC: 17:41053113 G / A
gnomAD v2: 17-41053113-G-A
gnomAD v3: 17-42901096-G-A
gnomAD v4: 17-42901096-G-A
COSMIC: COSM979691
MyVariant Identifiers: chr17:g.41053113G>A (hg19) chr17:g.42901096G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901096G>A , CM000679.2:g.42901096G>A GRCh38
NC_000017.10:g.41053113G>A , CM000679.1:g.41053113G>A GRCh37
NC_000017.9:g.38306639G>A NCBI36
NG_011808.1:g.5299G>A , LRG_147:g.5299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.220G>A MANE Select ENSP00000253801.1:p.Val74Ile
ENST00000253801.6:c.220G>A ENSP00000253801.1:p.Val74Ile
ENST00000585489.1:c.220G>A ENSP00000466202.1:p.Val74Ile
ENST00000588481.1:n.285G>A
ENST00000592383.5:c.220G>A ENSP00000465958.1:p.Val74Ile
NM_000151.3:c.220G>A NP_000142.2:p.Val74Ile
NM_001270397.1:c.220G>A NP_001257326.1:p.Val74Ile
NM_000151.4:c.220G>A MANE Select NP_000142.2:p.Val74Ile
NM_001270397.2:c.220G>A NP_001257326.1:p.Val74Ile
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Search 100 bp 3'