Canonical Allele Identifier: CA4599606

Gene: ARHGEF10

Linked Data

• ClinVar Variation Id: 2903649
• ClinVar RCV Id: RCV003726835
• dbSNP Id: rs559084209
• ExAC: 8:1806233 G / A
• gnomAD v2: 8-1806233-G-A
• gnomAD v3: 8-1858067-G-A
• gnomAD v4: 8-1858067-G-A
• MyVariant Identifiers: chr8:g.1806233G>A (hg19) ; chr8:g.1858067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1858067G>A , CM000670.2:g.1858067G>A	GRCh38
NC_000008.10:g.1806233G>A , CM000670.1:g.1806233G>A	GRCh37
NC_000008.9:g.1793640G>A	NCBI36
NG_008480.1:g.39085G>A , LRG_234:g.39085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349830.8:c.145G>A MANE Select	ENSP00000340297.3:p.Ala49Thr
ENST00000635773.1:c.604G>A
ENST00000635855.1:c.*96G>A	ENSP00000489726.1:n.*96G>A
ENST00000636175.1:c.535G>A
ENST00000349830.7:c.145G>A	ENSP00000340297.3:p.Ala49Thr
ENST00000398564.5:c.217G>A	ENSP00000381571.1:p.Ala73Thr
ENST00000518288.5:c.217G>A	ENSP00000431012.1:p.Ala73Thr
ENST00000520359.5:c.145G>A	ENSP00000427909.1:p.Ala49Thr
NM_001308152.1:c.145G>A	NP_001295081.1:p.Ala49Thr
NM_001308153.1:c.217G>A	NP_001295082.1:p.Ala73Thr
NM_014629.2:c.145G>A , LRG_234t1:c.145G>A	NP_055444.2:p.Ala49Thr
NM_014629.3:c.145G>A	NP_055444.2:p.Ala49Thr
XM_005266041.2:c.145G>A	XP_005266098.1:p.Ala49Thr
XM_011534766.1:c.145G>A	XP_011533068.1:p.Ala49Thr
XM_011534767.1:c.145G>A	XP_011533069.1:p.Ala49Thr
XM_011534768.1:c.145G>A	XP_011533070.1:p.Ala49Thr
XM_011534769.1:c.100G>A	XP_011533071.1:p.Ala34Thr
XM_011534770.1:c.145G>A	XP_011533072.1:p.Ala49Thr
XM_005266041.4:c.145G>A	XP_005266098.1:p.Ala49Thr
XM_011534767.2:c.145G>A	XP_011533069.1:p.Ala49Thr
XM_011534770.2:c.145G>A	XP_011533072.1:p.Ala49Thr
XM_017014003.1:c.217G>A	XP_016869492.1:p.Ala73Thr
XM_024447334.1:c.145G>A	XP_024303102.1:p.Ala49Thr
XM_024447335.1:c.229G>A	XP_024303103.1:p.Ala77Thr
NM_014629.4:c.145G>A MANE Select	NP_055444.2:p.Ala49Thr
NM_001308152.2:c.145G>A	NP_001295081.1:p.Ala49Thr
NM_001308153.2:c.217G>A	NP_001295082.1:p.Ala73Thr