Canonical Allele Identifier: CA8587480
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1154825
ClinVar RCV Id: RCV001496952
dbSNP Id: rs763922040
ExAC: 17:41052935 G / A
gnomAD v2: 17-41052935-G-A
gnomAD v4: 17-42900918-G-A
MyVariant Identifiers: chr17:g.41052935G>A (hg19) chr17:g.42900918G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900918G>A , CM000679.2:g.42900918G>A GRCh38
NC_000017.10:g.41052935G>A , CM000679.1:g.41052935G>A GRCh37
NC_000017.9:g.38306461G>A NCBI36
NG_011808.1:g.5121G>A , LRG_147:g.5121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.42G>A MANE Select ENSP00000253801.1:p.Gln14=
ENST00000253801.6:c.42G>A ENSP00000253801.1:p.Gln14=
ENST00000585489.1:c.42G>A ENSP00000466202.1:p.Gln14=
ENST00000588481.1:n.107G>A
ENST00000592383.5:c.42G>A ENSP00000465958.1:p.Gln14=
NM_000151.3:c.42G>A NP_000142.2:p.Gln14=
NM_001270397.1:c.42G>A NP_001257326.1:p.Gln14=
NM_000151.4:c.42G>A MANE Select NP_000142.2:p.Gln14=
NM_001270397.2:c.42G>A NP_001257326.1:p.Gln14=
Search 100 bp 5'
Search 100 bp 3'