Canonical Allele Identifier: CA274168
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188945
ClinVar RCV Id: RCV000169319
dbSNP Id: rs367727229
ExAC: 17:41063381 G / T
gnomAD v2: 17-41063381-G-T
gnomAD v3: 17-42911364-G-T
gnomAD v4: 17-42911364-G-T
MyVariant Identifiers: chr17:g.41063381G>T (hg19) chr17:g.42911364G>T (hg38)
PubMed: PMID:10070617 PMID:10834516 PMID:11310582 PMID:11739393
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911364G>T , CM000679.2:g.42911364G>T GRCh38
NC_000017.10:g.41063381G>T , CM000679.1:g.41063381G>T GRCh37
NC_000017.9:g.38316907G>T NCBI36
NG_011808.1:g.15567G>T , LRG_147:g.15567G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1012G>T MANE Select ENSP00000253801.1:p.Val338Phe
ENST00000253801.6:c.1012G>T ENSP00000253801.1:p.Val338Phe
ENST00000585489.1:c.*404G>T ENSP00000466202.1:n.*404G>T
NM_000151.3:c.1012G>T NP_000142.2:p.Val338Phe
NM_001270397.1:c.*404G>T NP_001257326.1:n.*404G>T
NM_000151.4:c.1012G>T MANE Select NP_000142.2:p.Val338Phe
NM_001270397.2:c.*404G>T NP_001257326.1:n.*404G>T
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