Canonical Allele Identifier: CA8587588
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1682505
ClinVar RCV Id: RCV002237494
dbSNP Id: rs756002909
ExAC: 17:41061316 G / A
gnomAD v2: 17-41061316-G-A
gnomAD v4: 17-42909299-G-A
MyVariant Identifiers: chr17:g.41061316G>A (hg19) chr17:g.42909299G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909299G>A , CM000679.2:g.42909299G>A GRCh38
NC_000017.10:g.41061316G>A , CM000679.1:g.41061316G>A GRCh37
NC_000017.9:g.38314842G>A NCBI36
NG_011808.1:g.13502G>A , LRG_147:g.13502G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.447-4G>A MANE Select ENSP00000253801.1:n.447-4G>A
ENST00000253801.6:c.447-4G>A ENSP00000253801.1:n.447-4G>A
ENST00000585489.1:c.447-1616G>A ENSP00000466202.1:n.447-1616G>A
ENST00000592383.5:c.370-4G>A ENSP00000465958.1:n.370-4G>A
NM_000151.3:c.447-4G>A NP_000142.2:n.447-4G>A
NM_001270397.1:c.370-4G>A NP_001257326.1:n.370-4G>A
NM_000151.4:c.447-4G>A MANE Select NP_000142.2:n.447-4G>A
NM_001270397.2:c.370-4G>A NP_001257326.1:n.370-4G>A
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