Canonical Allele Identifier: CA9136901
Gene: ARHGEF18 HGNC NCBI

Linked Data

ClinVar Variation Id: 1346227
ClinVar RCV Id: RCV002041370
dbSNP Id: rs771589545
gnomAD v2: 19-7527143-C-T
gnomAD v4: 19-7462257-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7462257C>T , CM000681.2:g.7462257C>T GRCh38
NC_000019.9:g.7527143C>T , CM000681.1:g.7527143C>T GRCh37
NC_000019.8:g.7433143C>T NCBI36
NG_047135.1:g.118347C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319670.14:c.1520C>T ENSP00000319200.8:p.Pro507Leu
ENST00000359920.11:c.1832C>T ENSP00000352995.5:p.Pro611Leu
ENST00000594665.2:c.1520C>T ENSP00000470729.2:p.Pro507Leu
ENST00000617428.4:c.1520C>T ENSP00000482647.4:p.Pro507Leu
ENST00000668164.2:c.2558C>T MANE Select ENSP00000499655.2:p.Pro853Leu
ENST00000319670.13:c.1520C>T ENSP00000319200.7:p.Pro507Leu
ENST00000359920.10:c.1994C>T ENSP00000352995.4:p.Pro665Leu
ENST00000594665.1:c.927C>T
ENST00000617428.2:c.1794C>T
NM_001130955.1:c.1994C>T NP_001124427.1:p.Pro665Leu
NM_015318.3:c.1520C>T NP_056133.2:p.Pro507Leu
XM_005272464.3:c.2753C>T XP_005272521.1:p.Pro918Leu
XM_006722705.2:c.2558C>T XP_006722768.1:p.Pro853Leu
XM_006722706.2:c.2558C>T XP_006722769.1:p.Pro853Leu
XM_006722708.2:c.1520C>T XP_006722771.1:p.Pro507Leu
XM_006722709.2:c.1520C>T XP_006722772.1:p.Pro507Leu
XM_011527835.1:c.2753C>T XP_011526137.1:p.Pro918Leu
XM_011527836.1:c.2753C>T XP_011526138.1:p.Pro918Leu
XM_011527837.1:c.2753C>T XP_011526139.1:p.Pro918Leu
XM_011527838.1:c.2558C>T XP_011526140.1:p.Pro853Leu
XM_011527839.1:c.2510C>T XP_011526141.1:p.Pro837Leu
XM_011527840.1:c.1520C>T XP_011526142.1:p.Pro507Leu
XM_011527841.1:c.2753C>T XP_011526143.1:p.Pro918Leu
XM_005272464.4:c.2753C>T XP_005272521.1:p.Pro918Leu
XM_006722705.3:c.2558C>T XP_006722768.1:p.Pro853Leu
XM_006722706.3:c.2558C>T XP_006722769.1:p.Pro853Leu
XM_011527835.2:c.2753C>T XP_011526137.1:p.Pro918Leu
XM_011527836.2:c.2753C>T XP_011526138.1:p.Pro918Leu
XM_011527837.2:c.2753C>T XP_011526139.1:p.Pro918Leu
XM_011527838.3:c.2558C>T XP_011526140.1:p.Pro853Leu
XM_011527839.2:c.2510C>T XP_011526141.1:p.Pro837Leu
XM_011527840.2:c.1520C>T XP_011526142.1:p.Pro507Leu
XM_011527841.2:c.2753C>T XP_011526143.1:p.Pro918Leu
NM_001130955.2:c.1832C>T NP_001124427.2:p.Pro611Leu
NM_001367823.1:c.2558C>T MANE Select NP_001354752.1:p.Pro853Leu
NM_001367824.1:c.1520C>T NP_001354753.1:p.Pro507Leu
NM_015318.4:c.1520C>T NP_056133.2:p.Pro507Leu