Canonical Allele Identifier: CA8587708
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2183686
ClinVar RCV Id: RCV002599739
dbSNP Id: rs777825445
ExAC: 17:41063433 A / G
gnomAD v2: 17-41063433-A-G
gnomAD v3: 17-42911416-A-G
gnomAD v4: 17-42911416-A-G
MyVariant Identifiers: chr17:g.41063433A>G (hg19) chr17:g.42911416A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911416A>G , CM000679.2:g.42911416A>G GRCh38
NC_000017.10:g.41063433A>G , CM000679.1:g.41063433A>G GRCh37
NC_000017.9:g.38316959A>G NCBI36
NG_011808.1:g.15619A>G , LRG_147:g.15619A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1064A>G MANE Select ENSP00000253801.1:p.Lys355Arg
ENST00000253801.6:c.1064A>G ENSP00000253801.1:p.Lys355Arg
ENST00000585489.1:c.*456A>G ENSP00000466202.1:n.*456A>G
NM_000151.3:c.1064A>G NP_000142.2:p.Lys355Arg
NM_001270397.1:c.*456A>G NP_001257326.1:n.*456A>G
NM_000151.4:c.1064A>G MANE Select NP_000142.2:p.Lys355Arg
NM_001270397.2:c.*456A>G NP_001257326.1:n.*456A>G
Search 100 bp 5'
Search 100 bp 3'