Canonical Allele Identifier: CA626069896

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 517869
• ClinVar RCV Id: RCV000609093 ; RCV002233010
• dbSNP Id: rs1200297208
• gnomAD v2: 17-41055944-A-G
• gnomAD v4: 17-42903927-A-G
• MyVariant Identifiers: chr17:g.41055944A>G (hg19) ; chr17:g.42903927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903927A>G , CM000679.2:g.42903927A>G	GRCh38
NC_000017.10:g.41055944A>G , CM000679.1:g.41055944A>G	GRCh37
NC_000017.9:g.38309470A>G	NCBI36
NG_011808.1:g.8130A>G , LRG_147:g.8130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.231-4A>G MANE Select	ENSP00000253801.1:n.231-4A>G
ENST00000253801.6:c.231-4A>G	ENSP00000253801.1:n.231-4A>G
ENST00000585489.1:c.231-4A>G	ENSP00000466202.1:n.231-4A>G
ENST00000588481.1:n.296-4A>G
ENST00000592383.5:c.231-4A>G	ENSP00000465958.1:n.231-4A>G
NM_000151.3:c.231-4A>G	NP_000142.2:n.231-4A>G
NM_001270397.1:c.231-4A>G	NP_001257326.1:n.231-4A>G
NM_000151.4:c.231-4A>G MANE Select	NP_000142.2:n.231-4A>G
NM_001270397.2:c.231-4A>G	NP_001257326.1:n.231-4A>G