Canonical Allele Identifier: CA8587597
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 929150
ClinVar RCV Id: RCV001194214 RCV003396803
dbSNP Id: rs750470654
ExAC: 17:41061382 G / A
gnomAD v2: 17-41061382-G-A
gnomAD v3: 17-42909365-G-A
gnomAD v4: 17-42909365-G-A
COSMIC: COSM3517835
MyVariant Identifiers: chr17:g.41061382G>A (hg19) chr17:g.42909365G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909365G>A , CM000679.2:g.42909365G>A GRCh38
NC_000017.10:g.41061382G>A , CM000679.1:g.41061382G>A GRCh37
NC_000017.9:g.38314908G>A NCBI36
NG_011808.1:g.13568G>A , LRG_147:g.13568G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.509G>A MANE Select ENSP00000253801.1:p.Arg170Gln
ENST00000253801.6:c.509G>A ENSP00000253801.1:p.Arg170Gln
ENST00000585489.1:c.447-1550G>A ENSP00000466202.1:n.447-1550G>A
ENST00000592383.5:c.432G>A ENSP00000465958.1:p.Thr144=
NM_000151.3:c.509G>A NP_000142.2:p.Arg170Gln
NM_001270397.1:c.432G>A NP_001257326.1:p.Thr144=
NM_000151.4:c.509G>A MANE Select NP_000142.2:p.Arg170Gln
NM_001270397.2:c.432G>A NP_001257326.1:p.Thr144=
Search 100 bp 5'
Search 100 bp 3'