Canonical Allele Identifier: CA403088136

Gene: ARHGEF18

Linked Data

• ClinVar Variation Id: 2115756
• ClinVar RCV Id: RCV003024376
• gnomAD v4: 19-7467418-C-T
• MyVariant Identifiers: chr19:g.7532304C>T (hg19) ; chr19:g.7467418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7467418C>T , CM000681.2:g.7467418C>T	GRCh38
NC_000019.9:g.7532304C>T , CM000681.1:g.7532304C>T	GRCh37
NC_000019.8:g.7438304C>T	NCBI36
NG_047135.1:g.123508C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000319670.14:c.2173C>T	ENSP00000319200.8:p.Arg725Cys
ENST00000359920.11:c.2488C>T	ENSP00000352995.5:p.Arg830Cys
ENST00000594665.2:c.2176C>T	ENSP00000470729.2:p.Arg726Cys
ENST00000617428.4:c.2176C>T	ENSP00000482647.4:p.Arg726Cys
ENST00000668164.2:c.3214C>T MANE Select	ENSP00000499655.2:p.Arg1072Cys
ENST00000319670.13:c.2176C>T	ENSP00000319200.7:p.Arg726Cys
ENST00000359920.10:c.2650C>T	ENSP00000352995.4:p.Arg884Cys
ENST00000594665.1:c.1565C>T
ENST00000617428.2:c.2450C>T
NM_001130955.1:c.2650C>T	NP_001124427.1:p.Arg884Cys
NM_015318.3:c.2176C>T	NP_056133.2:p.Arg726Cys
XM_005272464.3:c.3409C>T	XP_005272521.1:p.Arg1137Cys
XM_006722705.2:c.3214C>T	XP_006722768.1:p.Arg1072Cys
XM_006722706.2:c.3214C>T	XP_006722769.1:p.Arg1072Cys
XM_006722708.2:c.2176C>T	XP_006722771.1:p.Arg726Cys
XM_006722709.2:c.2176C>T	XP_006722772.1:p.Arg726Cys
XM_011527835.1:c.3409C>T	XP_011526137.1:p.Arg1137Cys
XM_011527836.1:c.3409C>T	XP_011526138.1:p.Arg1137Cys
XM_011527837.1:c.3409C>T	XP_011526139.1:p.Arg1137Cys
XM_011527838.1:c.3214C>T	XP_011526140.1:p.Arg1072Cys
XM_011527839.1:c.3166C>T	XP_011526141.1:p.Arg1056Cys
XM_011527840.1:c.2176C>T	XP_011526142.1:p.Arg726Cys
XM_005272464.4:c.3409C>T	XP_005272521.1:p.Arg1137Cys
XM_006722705.3:c.3214C>T	XP_006722768.1:p.Arg1072Cys
XM_006722706.3:c.3214C>T	XP_006722769.1:p.Arg1072Cys
XM_011527835.2:c.3409C>T	XP_011526137.1:p.Arg1137Cys
XM_011527836.2:c.3409C>T	XP_011526138.1:p.Arg1137Cys
XM_011527837.2:c.3409C>T	XP_011526139.1:p.Arg1137Cys
XM_011527838.3:c.3214C>T	XP_011526140.1:p.Arg1072Cys
XM_011527839.2:c.3166C>T	XP_011526141.1:p.Arg1056Cys
XM_011527840.2:c.2176C>T	XP_011526142.1:p.Arg726Cys
NM_001130955.2:c.2488C>T	NP_001124427.2:p.Arg830Cys
NM_001367823.1:c.3214C>T MANE Select	NP_001354752.1:p.Arg1072Cys
NM_001367824.1:c.2176C>T	NP_001354753.1:p.Arg726Cys
NM_015318.4:c.2176C>T	NP_056133.2:p.Arg726Cys