Canonical Allele Identifier: CA399654642
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2802711
ClinVar RCV Id: RCV003624855
gnomAD v4: 17-42909302-G-C
MyVariant Identifiers: chr17:g.41061319G>C (hg19) chr17:g.42909302G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909302G>C , CM000679.2:g.42909302G>C GRCh38
NC_000017.10:g.41061319G>C , CM000679.1:g.41061319G>C GRCh37
NC_000017.9:g.38314845G>C NCBI36
NG_011808.1:g.13505G>C , LRG_147:g.13505G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.447-1G>C MANE Select ENSP00000253801.1:n.447-1G>C
ENST00000253801.6:c.447-1G>C ENSP00000253801.1:n.447-1G>C
ENST00000585489.1:c.447-1613G>C ENSP00000466202.1:n.447-1613G>C
ENST00000592383.5:c.370-1G>C ENSP00000465958.1:n.370-1G>C
NM_000151.3:c.447-1G>C NP_000142.2:n.447-1G>C
NM_001270397.1:c.370-1G>C NP_001257326.1:n.370-1G>C
NM_000151.4:c.447-1G>C MANE Select NP_000142.2:n.447-1G>C
NM_001270397.2:c.370-1G>C NP_001257326.1:n.370-1G>C
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