Canonical Allele Identifier: CA4599592

Gene: ARHGEF10

Linked Data

• ClinVar Variation Id: 2150296
• ClinVar RCV Id: RCV004071655 ; RCV003083389
• dbSNP Id: rs775076236
• ExAC: 8:1806213 C / T
• gnomAD v2: 8-1806213-C-T
• gnomAD v3: 8-1858047-C-T
• gnomAD v4: 8-1858047-C-T
• MyVariant Identifiers: chr8:g.1806213C>T (hg19) ; chr8:g.1858047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1858047C>T , CM000670.2:g.1858047C>T	GRCh38
NC_000008.10:g.1806213C>T , CM000670.1:g.1806213C>T	GRCh37
NC_000008.9:g.1793620C>T	NCBI36
NG_008480.1:g.39065C>T , LRG_234:g.39065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349830.8:c.125C>T MANE Select	ENSP00000340297.3:p.Ala42Val
ENST00000635773.1:c.584C>T
ENST00000635855.1:c.*76C>T	ENSP00000489726.1:n.*76C>T
ENST00000636175.1:c.515C>T
ENST00000349830.7:c.125C>T	ENSP00000340297.3:p.Ala42Val
ENST00000398564.5:c.197C>T	ENSP00000381571.1:p.Ala66Val
ENST00000518288.5:c.197C>T	ENSP00000431012.1:p.Ala66Val
ENST00000520359.5:c.125C>T	ENSP00000427909.1:p.Ala42Val
NM_001308152.1:c.125C>T	NP_001295081.1:p.Ala42Val
NM_001308153.1:c.197C>T	NP_001295082.1:p.Ala66Val
NM_014629.2:c.125C>T , LRG_234t1:c.125C>T	NP_055444.2:p.Ala42Val
NM_014629.3:c.125C>T	NP_055444.2:p.Ala42Val
XM_005266041.2:c.125C>T	XP_005266098.1:p.Ala42Val
XM_011534766.1:c.125C>T	XP_011533068.1:p.Ala42Val
XM_011534767.1:c.125C>T	XP_011533069.1:p.Ala42Val
XM_011534768.1:c.125C>T	XP_011533070.1:p.Ala42Val
XM_011534769.1:c.80C>T	XP_011533071.1:p.Ala27Val
XM_011534770.1:c.125C>T	XP_011533072.1:p.Ala42Val
XM_005266041.4:c.125C>T	XP_005266098.1:p.Ala42Val
XM_011534767.2:c.125C>T	XP_011533069.1:p.Ala42Val
XM_011534770.2:c.125C>T	XP_011533072.1:p.Ala42Val
XM_017014003.1:c.197C>T	XP_016869492.1:p.Ala66Val
XM_024447334.1:c.125C>T	XP_024303102.1:p.Ala42Val
XM_024447335.1:c.209C>T	XP_024303103.1:p.Ala70Val
NM_014629.4:c.125C>T MANE Select	NP_055444.2:p.Ala42Val
NM_001308152.2:c.125C>T	NP_001295081.1:p.Ala42Val
NM_001308153.2:c.197C>T	NP_001295082.1:p.Ala66Val