Canonical Allele Identifier: CA8587719
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323365
ClinVar RCV Id: RCV000374127
dbSNP Id: rs377739870
ExAC: 17:41063467 A / C
gnomAD v2: 17-41063467-A-C
gnomAD v3: 17-42911450-A-C
gnomAD v4: 17-42911450-A-C
MyVariant Identifiers: chr17:g.41063467A>C (hg19) chr17:g.42911450A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911450A>C , CM000679.2:g.42911450A>C GRCh38
NC_000017.10:g.41063467A>C , CM000679.1:g.41063467A>C GRCh37
NC_000017.9:g.38316993A>C NCBI36
NG_011808.1:g.15653A>C , LRG_147:g.15653A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*24A>C MANE Select ENSP00000253801.1:n.*24A>C
ENST00000253801.6:c.*24A>C ENSP00000253801.1:n.*24A>C
ENST00000585489.1:c.*490A>C ENSP00000466202.1:n.*490A>C
NM_000151.3:c.*24A>C NP_000142.2:n.*24A>C
NM_001270397.1:c.*490A>C NP_001257326.1:n.*490A>C
NM_000151.4:c.*24A>C MANE Select NP_000142.2:n.*24A>C
NM_001270397.2:c.*490A>C NP_001257326.1:n.*490A>C
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