Canonical Allele Identifier: CA321240

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 214463
• ClinVar RCV Id: RCV000196826 ; RCV001240860 ; RCV004020398
• dbSNP Id: rs768385469
• ExAC: 17:41063279 G / A
• gnomAD v2: 17-41063279-G-A
• gnomAD v3: 17-42911262-G-A
• gnomAD v4: 17-42911262-G-A
• COSMIC: COSM74713
• MyVariant Identifiers: chr17:g.41063279G>A (hg19) ; chr17:g.42911262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911262G>A , CM000679.2:g.42911262G>A	GRCh38
NC_000017.10:g.41063279G>A , CM000679.1:g.41063279G>A	GRCh37
NC_000017.9:g.38316805G>A	NCBI36
NG_011808.1:g.15465G>A , LRG_147:g.15465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.910G>A MANE Select	ENSP00000253801.1:p.Val304Ile
ENST00000253801.6:c.910G>A	ENSP00000253801.1:p.Val304Ile
ENST00000585489.1:c.*302G>A	ENSP00000466202.1:n.*302G>A
ENST00000592383.5:c.*302G>A	ENSP00000465958.1:n.*302G>A
NM_000151.3:c.910G>A	NP_000142.2:p.Val304Ile
NM_001270397.1:c.*302G>A	NP_001257326.1:n.*302G>A
NM_000151.4:c.910G>A MANE Select	NP_000142.2:p.Val304Ile
NM_001270397.2:c.*302G>A	NP_001257326.1:n.*302G>A