Canonical Allele Identifier: CA323719
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214461
ClinVar RCV Id: RCV000199189 RCV000665692 RCV003488455
dbSNP Id: rs143321486
ExAC: 17:41063312 C / G
gnomAD v2: 17-41063312-C-G
gnomAD v3: 17-42911295-C-G
gnomAD v4: 17-42911295-C-G
MyVariant Identifiers: chr17:g.41063312C>G (hg19) chr17:g.42911295C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911295C>G , CM000679.2:g.42911295C>G GRCh38
NC_000017.10:g.41063312C>G , CM000679.1:g.41063312C>G GRCh37
NC_000017.9:g.38316838C>G NCBI36
NG_011808.1:g.15498C>G , LRG_147:g.15498C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.943C>G MANE Select ENSP00000253801.1:p.Pro315Ala
ENST00000253801.6:c.943C>G ENSP00000253801.1:p.Pro315Ala
ENST00000585489.1:c.*335C>G ENSP00000466202.1:n.*335C>G
ENST00000592383.5:c.*335C>G ENSP00000465958.1:n.*335C>G
NM_000151.3:c.943C>G NP_000142.2:p.Pro315Ala
NM_001270397.1:c.*335C>G NP_001257326.1:n.*335C>G
NM_000151.4:c.943C>G MANE Select NP_000142.2:p.Pro315Ala
NM_001270397.2:c.*335C>G NP_001257326.1:n.*335C>G
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