Canonical Allele Identifier: CA8587541

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 285532
• ClinVar RCV Id: RCV000371551 ; RCV000725686 ; RCV001082635 ; RCV001274703
• dbSNP Id: rs368450665
• ExAC: 17:41056067 C / A
• gnomAD v2: 17-41056067-C-A
• gnomAD v3: 17-42904050-C-A
• gnomAD v4: 17-42904050-C-A
• MyVariant Identifiers: chr17:g.41056067C>A (hg19) ; chr17:g.42904050C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42904050C>A , CM000679.2:g.42904050C>A	GRCh38
NC_000017.10:g.41056067C>A , CM000679.1:g.41056067C>A	GRCh37
NC_000017.9:g.38309593C>A	NCBI36
NG_011808.1:g.8253C>A , LRG_147:g.8253C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.340+10C>A MANE Select	ENSP00000253801.1:n.340+10C>A
ENST00000253801.6:c.340+10C>A	ENSP00000253801.1:n.340+10C>A
ENST00000585489.1:c.340+10C>A	ENSP00000466202.1:n.340+10C>A
ENST00000588481.1:n.415C>A
ENST00000592383.5:c.340+10C>A	ENSP00000465958.1:n.340+10C>A
NM_000151.3:c.340+10C>A	NP_000142.2:n.340+10C>A
NM_001270397.1:c.340+10C>A	NP_001257326.1:n.340+10C>A
NM_000151.4:c.340+10C>A MANE Select	NP_000142.2:n.340+10C>A
NM_001270397.2:c.340+10C>A	NP_001257326.1:n.340+10C>A