Canonical Allele Identifier: CA320198

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 214464
• ClinVar RCV Id: RCV000673964
• dbSNP Id: rs863224023
• gnomAD v4: 17-42901107-G-C
• MyVariant Identifiers: chr17:g.41053124G>C (hg19) ; chr17:g.42901107G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901107G>C , CM000679.2:g.42901107G>C	GRCh38
NC_000017.10:g.41053124G>C , CM000679.1:g.41053124G>C	GRCh37
NC_000017.9:g.38306650G>C	NCBI36
NG_011808.1:g.5310G>C , LRG_147:g.5310G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.230+1G>C MANE Select	ENSP00000253801.1:n.230+1G>C
ENST00000253801.6:c.230+1G>C	ENSP00000253801.1:n.230+1G>C
ENST00000585489.1:c.230+1G>C	ENSP00000466202.1:n.230+1G>C
ENST00000588481.1:n.295+1G>C
ENST00000592383.5:c.230+1G>C	ENSP00000465958.1:n.230+1G>C
NM_000151.3:c.230+1G>C	NP_000142.2:n.230+1G>C
NM_001270397.1:c.230+1G>C	NP_001257326.1:n.230+1G>C
NM_000151.4:c.230+1G>C MANE Select	NP_000142.2:n.230+1G>C
NM_001270397.2:c.230+1G>C	NP_001257326.1:n.230+1G>C