Canonical Allele Identifier: CA8596127

Gene: G6PC3

Linked Data

• ClinVar Variation Id: 2975906
• ClinVar RCV Id: RCV003833992
• dbSNP Id: rs752981586
• ExAC: 17:42153054 C / T
• gnomAD v2: 17-42153054-C-T
• gnomAD v3: 17-44075686-C-T
• gnomAD v4: 17-44075686-C-T
• MyVariant Identifiers: chr17:g.42153054C>T (hg19) ; chr17:g.44075686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075686C>T , CM000679.2:g.44075686C>T	GRCh38
NC_000017.10:g.42153054C>T , CM000679.1:g.42153054C>T	GRCh37
NC_000017.9:g.39508580C>T	NCBI36
NG_015818.1:g.9957C>T , LRG_182:g.9957C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*521C>T	ENSP00000466983.1:n.*521C>T
ENST00000588558.6:c.*659C>T	ENSP00000467624.1:n.*659C>T
ENST00000590253.3:c.565C>T	ENSP00000465111.2:p.Gln189Ter
ENST00000593115.2:c.*705C>T	ENSP00000466821.1:n.*705C>T
ENST00000696383.1:c.339C>T	ENSP00000512593.1:p.Ile113=
ENST00000696384.1:c.*244C>T	ENSP00000512594.1:n.*244C>T
ENST00000696385.1:c.*402C>T	ENSP00000512595.1:n.*402C>T
ENST00000696386.1:c.367C>T	ENSP00000512596.1:p.Gln123Ter
ENST00000696387.1:c.*311C>T	ENSP00000512597.1:n.*311C>T
ENST00000696388.1:c.*530C>T	ENSP00000512598.1:n.*530C>T
ENST00000696389.1:c.*715C>T	ENSP00000512599.1:n.*715C>T
ENST00000696390.1:c.474C>T	ENSP00000512600.1:p.Ile158=
ENST00000696391.1:c.*540C>T	ENSP00000512601.1:n.*540C>T
ENST00000696392.1:c.684C>T	ENSP00000512602.1:p.Ile228=
ENST00000696393.1:c.684C>T	ENSP00000512603.1:p.Ile228=
ENST00000696405.1:c.677+235C>T	ENSP00000512607.1:n.677+235C>T
ENST00000269097.9:c.684C>T MANE Select	ENSP00000269097.3:p.Ile228=
ENST00000269097.8:c.684C>T	ENSP00000269097.3:p.Ile228=
ENST00000585361.5:c.*521C>T	ENSP00000466983.1:n.*521C>T
ENST00000588558.5:c.*659C>T	ENSP00000467624.1:n.*659C>T
ENST00000590253.2:c.186C>T
ENST00000590639.1:n.705C>T
ENST00000591696.1:c.576C>T	ENSP00000468677.1:p.Ile192=
NM_138387.3:c.684C>T , LRG_182t1:c.684C>T	NP_612396.1:p.Ile228=
NR_028581.1:n.1114C>T
NR_028582.1:n.979C>T
XM_006722179.2:c.565C>T	XP_006722242.1:p.Gln189Ter
XM_011525473.1:c.339C>T	XP_011523775.1:p.Ile113=
XM_011525474.1:c.339C>T	XP_011523776.1:p.Ile113=
NM_001319945.1:c.565C>T	NP_001306874.1:p.Gln189Ter
XM_011525473.3:c.339C>T	XP_011523775.1:p.Ile113=
XM_011525474.3:c.339C>T	XP_011523776.1:p.Ile113=
XM_017025335.2:c.339C>T	XP_016880824.1:p.Ile113=
NM_001319945.2:c.565C>T	NP_001306874.1:p.Gln189Ter
NR_028581.2:n.933C>T
NR_028582.2:n.798C>T
NM_001384165.1:c.339C>T	NP_001371094.1:p.Ile113=
NM_001384166.1:c.339C>T	NP_001371095.1:p.Ile113=
NM_001384167.1:c.339C>T	NP_001371096.1:p.Ile113=
NM_001384168.1:c.339C>T	NP_001371097.1:p.Ile113=
NM_138387.4:c.684C>T MANE Select	NP_612396.1:p.Ile228=