Canonical Allele Identifier: CA290967

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 212778
• ClinVar RCV Id: RCV000125158 ; RCV000278532 ; RCV000675765
• dbSNP Id: rs191399793
• ExAC: 17:41063446 G / A
• gnomAD v2: 17-41063446-G-A
• gnomAD v3: 17-42911429-G-A
• gnomAD v4: 17-42911429-G-A
• MyVariant Identifiers: chr17:g.41063446G>A (hg19) ; chr17:g.42911429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911429G>A , CM000679.2:g.42911429G>A	GRCh38
NC_000017.10:g.41063446G>A , CM000679.1:g.41063446G>A	GRCh37
NC_000017.9:g.38316972G>A	NCBI36
NG_011808.1:g.15632G>A , LRG_147:g.15632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.*3G>A MANE Select	ENSP00000253801.1:n.*3G>A
ENST00000253801.6:c.*3G>A	ENSP00000253801.1:n.*3G>A
ENST00000585489.1:c.*469G>A	ENSP00000466202.1:n.*469G>A
NM_000151.3:c.*3G>A	NP_000142.2:n.*3G>A
NM_001270397.1:c.*469G>A	NP_001257326.1:n.*469G>A
NM_000151.4:c.*3G>A MANE Select	NP_000142.2:n.*3G>A
NM_001270397.2:c.*469G>A	NP_001257326.1:n.*469G>A