Canonical Allele Identifier: CA290790228
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1682541
ClinVar RCV Id: RCV002239903
dbSNP Id: rs975072899
gnomAD v2: 17-41063413-C-G
gnomAD v4: 17-42911396-C-G
MyVariant Identifiers: chr17:g.41063413C>G (hg19) chr17:g.42911396C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911396C>G , CM000679.2:g.42911396C>G GRCh38
NC_000017.10:g.41063413C>G , CM000679.1:g.41063413C>G GRCh37
NC_000017.9:g.38316939C>G NCBI36
NG_011808.1:g.15599C>G , LRG_147:g.15599C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1044C>G MANE Select ENSP00000253801.1:p.Val348=
ENST00000253801.6:c.1044C>G ENSP00000253801.1:p.Val348=
ENST00000585489.1:c.*436C>G ENSP00000466202.1:n.*436C>G
NM_000151.3:c.1044C>G NP_000142.2:p.Val348=
NM_001270397.1:c.*436C>G NP_001257326.1:n.*436C>G
NM_000151.4:c.1044C>G MANE Select NP_000142.2:p.Val348=
NM_001270397.2:c.*436C>G NP_001257326.1:n.*436C>G
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