Canonical Allele Identifier: CA8587698
Gene: G6PC1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42911364G>A
GRCh37 chr17:g.41063381G>A
Revel Score:
ENST00000253801 (MANE Select) 0.375
gnomAD v2:
17:41063381 G / A
gnomAD v3:
17:42911364 G / A
gnomAD v4:
chr17-42911364-G-A
Joint Max Group AF 0.00016267 (SAS)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00017248 (SAS)
ClinVar Allele:
1674436
ClinVar RCV:
RCV002237517
ClinVar Variation:
1682536
dbSNP:
367727229
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1012G>A MANE Select ENSP00000253801.1:p.Val338Ile
ENST00000253801.6:c.1012G>A ENSP00000253801.1:p.Val338Ile
ENST00000585489.1:c.*404G>A ENSP00000466202.1:n.*404G>A
NM_000151.3:c.1012G>A NP_000142.2:p.Val338Ile
NM_001270397.1:c.*404G>A NP_001257326.1:n.*404G>A
NM_000151.4:c.1012G>A MANE Select NP_000142.2:p.Val338Ile
NM_001270397.2:c.*404G>A NP_001257326.1:n.*404G>A
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