Canonical Allele Identifier: CA399727429

Gene: G6PC3

Linked Data

• ClinVar Variation Id: 2162374
• ClinVar RCV Id: RCV003070209
• dbSNP Id: rs1158573798
• gnomAD v2: 17-42152702-C-T
• gnomAD v4: 17-44075334-C-T
• MyVariant Identifiers: chr17:g.42152702C>T (hg19) ; chr17:g.44075334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075334C>T , CM000679.2:g.44075334C>T	GRCh38
NC_000017.10:g.42152702C>T , CM000679.1:g.42152702C>T	GRCh37
NC_000017.9:g.39508228C>T	NCBI36
NG_015818.1:g.9605C>T , LRG_182:g.9605C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*397C>T	ENSP00000466983.1:n.*397C>T
ENST00000588558.6:c.*535C>T	ENSP00000467624.1:n.*535C>T
ENST00000590253.3:c.441C>T	ENSP00000465111.2:p.Asp147=
ENST00000593115.2:c.*581C>T	ENSP00000466821.1:n.*581C>T
ENST00000696383.1:c.215C>T	ENSP00000512593.1:p.Thr72Ile
ENST00000696384.1:c.*120C>T	ENSP00000512594.1:n.*120C>T
ENST00000696385.1:c.*278C>T	ENSP00000512595.1:n.*278C>T
ENST00000696386.1:c.243C>T	ENSP00000512596.1:p.Asp81=
ENST00000696387.1:c.*187C>T	ENSP00000512597.1:n.*187C>T
ENST00000696388.1:c.*406C>T	ENSP00000512598.1:n.*406C>T
ENST00000696389.1:c.*591C>T	ENSP00000512599.1:n.*591C>T
ENST00000696390.1:c.350C>T	ENSP00000512600.1:p.Thr117Ile
ENST00000696391.1:c.*416C>T	ENSP00000512601.1:n.*416C>T
ENST00000696392.1:c.560C>T	ENSP00000512602.1:p.Thr187Ile
ENST00000696393.1:c.560C>T	ENSP00000512603.1:p.Thr187Ile
ENST00000696405.1:c.560C>T	ENSP00000512607.1:p.Thr187Ile
ENST00000269097.9:c.560C>T MANE Select	ENSP00000269097.3:p.Thr187Ile
ENST00000269097.8:c.560C>T	ENSP00000269097.3:p.Thr187Ile
ENST00000585361.5:c.*397C>T	ENSP00000466983.1:n.*397C>T
ENST00000588558.5:c.*535C>T	ENSP00000467624.1:n.*535C>T
ENST00000590253.2:c.62C>T
ENST00000590639.1:n.581C>T
ENST00000591696.1:c.452C>T	ENSP00000468677.1:p.Thr151Ile
NM_138387.3:c.560C>T , LRG_182t1:c.560C>T	NP_612396.1:p.Thr187Ile
NR_028581.1:n.990C>T
NR_028582.1:n.855C>T
XM_006722179.2:c.441C>T	XP_006722242.1:p.Asp147=
XM_011525473.1:c.215C>T	XP_011523775.1:p.Thr72Ile
XM_011525474.1:c.215C>T	XP_011523776.1:p.Thr72Ile
NM_001319945.1:c.441C>T	NP_001306874.1:p.Asp147=
XM_011525473.3:c.215C>T	XP_011523775.1:p.Thr72Ile
XM_011525474.3:c.215C>T	XP_011523776.1:p.Thr72Ile
XM_017025335.2:c.215C>T	XP_016880824.1:p.Thr72Ile
NM_001319945.2:c.441C>T	NP_001306874.1:p.Asp147=
NR_028581.2:n.809C>T
NR_028582.2:n.674C>T
NM_001384165.1:c.215C>T	NP_001371094.1:p.Thr72Ile
NM_001384166.1:c.215C>T	NP_001371095.1:p.Thr72Ile
NM_001384167.1:c.215C>T	NP_001371096.1:p.Thr72Ile
NM_001384168.1:c.215C>T	NP_001371097.1:p.Thr72Ile
NM_138387.4:c.560C>T MANE Select	NP_612396.1:p.Thr187Ile