Canonical Allele Identifier: CA369954925
Gene: ARHGEF10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1031837
ClinVar RCV Id: RCV001333768
dbSNP Id: rs764859351
gnomAD v2: 8-1806209-G-T
gnomAD v4: 8-1858043-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1858043G>T , CM000670.2:g.1858043G>T GRCh38
NC_000008.10:g.1806209G>T , CM000670.1:g.1806209G>T GRCh37
NC_000008.9:g.1793616G>T NCBI36
NG_008480.1:g.39061G>T , LRG_234:g.39061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349830.8:c.121G>T MANE Select ENSP00000340297.3:p.Glu41Ter
ENST00000635773.1:c.580G>T
ENST00000635855.1:c.*72G>T ENSP00000489726.1:n.*72G>T
ENST00000636175.1:c.511G>T
ENST00000349830.7:c.121G>T ENSP00000340297.3:p.Glu41Ter
ENST00000398564.5:c.193G>T ENSP00000381571.1:p.Glu65Ter
ENST00000518288.5:c.193G>T ENSP00000431012.1:p.Glu65Ter
ENST00000520359.5:c.121G>T ENSP00000427909.1:p.Glu41Ter
NM_001308152.1:c.121G>T NP_001295081.1:p.Glu41Ter
NM_001308153.1:c.193G>T NP_001295082.1:p.Glu65Ter
NM_014629.2:c.121G>T , LRG_234t1:c.121G>T NP_055444.2:p.Glu41Ter
NM_014629.3:c.121G>T NP_055444.2:p.Glu41Ter
XM_005266041.2:c.121G>T XP_005266098.1:p.Glu41Ter
XM_011534766.1:c.121G>T XP_011533068.1:p.Glu41Ter
XM_011534767.1:c.121G>T XP_011533069.1:p.Glu41Ter
XM_011534768.1:c.121G>T XP_011533070.1:p.Glu41Ter
XM_011534769.1:c.76G>T XP_011533071.1:p.Glu26Ter
XM_011534770.1:c.121G>T XP_011533072.1:p.Glu41Ter
XM_005266041.4:c.121G>T XP_005266098.1:p.Glu41Ter
XM_011534767.2:c.121G>T XP_011533069.1:p.Glu41Ter
XM_011534770.2:c.121G>T XP_011533072.1:p.Glu41Ter
XM_017014003.1:c.193G>T XP_016869492.1:p.Glu65Ter
XM_024447334.1:c.121G>T XP_024303102.1:p.Glu41Ter
XM_024447335.1:c.205G>T XP_024303103.1:p.Glu69Ter
NM_014629.4:c.121G>T MANE Select NP_055444.2:p.Glu41Ter
NM_001308152.2:c.121G>T NP_001295081.1:p.Glu41Ter
NM_001308153.2:c.193G>T NP_001295082.1:p.Glu65Ter