Canonical Allele Identifier: CA8596088

Gene: G6PC3

Linked Data

• ClinVar Variation Id: 262367
• ClinVar RCV Id: RCV000246035 ; RCV000686679
• dbSNP Id: rs140294222
• ExAC: 17:42152708 G / A
• gnomAD v2: 17-42152708-G-A
• gnomAD v3: 17-44075340-G-A
• gnomAD v4: 17-44075340-G-A
• MyVariant Identifiers: chr17:g.42152708G>A (hg19) ; chr17:g.44075340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075340G>A , CM000679.2:g.44075340G>A	GRCh38
NC_000017.10:g.42152708G>A , CM000679.1:g.42152708G>A	GRCh37
NC_000017.9:g.39508234G>A	NCBI36
NG_015818.1:g.9611G>A , LRG_182:g.9611G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*403G>A	ENSP00000466983.1:n.*403G>A
ENST00000588558.6:c.*541G>A	ENSP00000467624.1:n.*541G>A
ENST00000590253.3:c.447G>A	ENSP00000465111.2:p.Pro149=
ENST00000593115.2:c.*587G>A	ENSP00000466821.1:n.*587G>A
ENST00000696383.1:c.221G>A	ENSP00000512593.1:p.Arg74Gln
ENST00000696384.1:c.*126G>A	ENSP00000512594.1:n.*126G>A
ENST00000696385.1:c.*284G>A	ENSP00000512595.1:n.*284G>A
ENST00000696386.1:c.249G>A	ENSP00000512596.1:p.Pro83=
ENST00000696387.1:c.*193G>A	ENSP00000512597.1:n.*193G>A
ENST00000696388.1:c.*412G>A	ENSP00000512598.1:n.*412G>A
ENST00000696389.1:c.*597G>A	ENSP00000512599.1:n.*597G>A
ENST00000696390.1:c.356G>A	ENSP00000512600.1:p.Arg119Gln
ENST00000696391.1:c.*422G>A	ENSP00000512601.1:n.*422G>A
ENST00000696392.1:c.566G>A	ENSP00000512602.1:p.Arg189Gln
ENST00000696393.1:c.566G>A	ENSP00000512603.1:p.Arg189Gln
ENST00000696405.1:c.566G>A	ENSP00000512607.1:p.Arg189Gln
ENST00000269097.9:c.566G>A MANE Select	ENSP00000269097.3:p.Arg189Gln
ENST00000269097.8:c.566G>A	ENSP00000269097.3:p.Arg189Gln
ENST00000585361.5:c.*403G>A	ENSP00000466983.1:n.*403G>A
ENST00000588558.5:c.*541G>A	ENSP00000467624.1:n.*541G>A
ENST00000590253.2:c.68G>A
ENST00000590639.1:n.587G>A
ENST00000591696.1:c.458G>A	ENSP00000468677.1:p.Arg153Gln
NM_138387.3:c.566G>A , LRG_182t1:c.566G>A	NP_612396.1:p.Arg189Gln
NR_028581.1:n.996G>A
NR_028582.1:n.861G>A
XM_006722179.2:c.447G>A	XP_006722242.1:p.Pro149=
XM_011525473.1:c.221G>A	XP_011523775.1:p.Arg74Gln
XM_011525474.1:c.221G>A	XP_011523776.1:p.Arg74Gln
NM_001319945.1:c.447G>A	NP_001306874.1:p.Pro149=
XM_011525473.3:c.221G>A	XP_011523775.1:p.Arg74Gln
XM_011525474.3:c.221G>A	XP_011523776.1:p.Arg74Gln
XM_017025335.2:c.221G>A	XP_016880824.1:p.Arg74Gln
NM_001319945.2:c.447G>A	NP_001306874.1:p.Pro149=
NR_028581.2:n.815G>A
NR_028582.2:n.680G>A
NM_001384165.1:c.221G>A	NP_001371094.1:p.Arg74Gln
NM_001384166.1:c.221G>A	NP_001371095.1:p.Arg74Gln
NM_001384167.1:c.221G>A	NP_001371096.1:p.Arg74Gln
NM_001384168.1:c.221G>A	NP_001371097.1:p.Arg74Gln
NM_138387.4:c.566G>A MANE Select	NP_612396.1:p.Arg189Gln