Canonical Allele Identifier: CA8587712
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 378938
ClinVar RCV Id: RCV000438691 RCV001521630
dbSNP Id: rs776022311
ExAC: 17:41063437 G / A
gnomAD v2: 17-41063437-G-A
gnomAD v3: 17-42911420-G-A
gnomAD v4: 17-42911420-G-A
MyVariant Identifiers: chr17:g.41063437G>A (hg19) chr17:g.42911420G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911420G>A , CM000679.2:g.42911420G>A GRCh38
NC_000017.10:g.41063437G>A , CM000679.1:g.41063437G>A GRCh37
NC_000017.9:g.38316963G>A NCBI36
NG_011808.1:g.15623G>A , LRG_147:g.15623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1068G>A MANE Select ENSP00000253801.1:p.Ser356=
ENST00000253801.6:c.1068G>A ENSP00000253801.1:p.Ser356=
ENST00000585489.1:c.*460G>A ENSP00000466202.1:n.*460G>A
NM_000151.3:c.1068G>A NP_000142.2:p.Ser356=
NM_001270397.1:c.*460G>A NP_001257326.1:n.*460G>A
NM_000151.4:c.1068G>A MANE Select NP_000142.2:p.Ser356=
NM_001270397.2:c.*460G>A NP_001257326.1:n.*460G>A
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