Canonical Allele Identifier: CA8587640
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 739530
ClinVar RCV Id: RCV000915503
dbSNP Id: rs762967975
ExAC: 17:41063092 C / T
gnomAD v2: 17-41063092-C-T
gnomAD v3: 17-42911075-C-T
gnomAD v4: 17-42911075-C-T
MyVariant Identifiers: chr17:g.41063092C>T (hg19) chr17:g.42911075C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911075C>T , CM000679.2:g.42911075C>T GRCh38
NC_000017.10:g.41063092C>T , CM000679.1:g.41063092C>T GRCh37
NC_000017.9:g.38316618C>T NCBI36
NG_011808.1:g.15278C>T , LRG_147:g.15278C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.723C>T MANE Select ENSP00000253801.1:p.Ala241=
ENST00000253801.6:c.723C>T ENSP00000253801.1:p.Ala241=
ENST00000585489.1:c.*115C>T ENSP00000466202.1:n.*115C>T
ENST00000592383.5:c.*115C>T ENSP00000465958.1:n.*115C>T
NM_000151.3:c.723C>T NP_000142.2:p.Ala241=
NM_001270397.1:c.*115C>T NP_001257326.1:n.*115C>T
NM_000151.4:c.723C>T MANE Select NP_000142.2:p.Ala241=
NM_001270397.2:c.*115C>T NP_001257326.1:n.*115C>T
Search 100 bp 5'
Search 100 bp 3'