Canonical Allele Identifier: CA9137126

Gene: ARHGEF18

Linked Data

• ClinVar Variation Id: 970036
• ClinVar RCV Id: RCV001245526 ; RCV003263892
• dbSNP Id: rs752835131
• ExAC: 19:7532296 G / A
• gnomAD v2: 19-7532296-G-A
• gnomAD v3: 19-7467410-G-A
• gnomAD v4: 19-7467410-G-A
• MyVariant Identifiers: chr19:g.7532296G>A (hg19) ; chr19:g.7467410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7467410G>A , CM000681.2:g.7467410G>A	GRCh38
NC_000019.9:g.7532296G>A , CM000681.1:g.7532296G>A	GRCh37
NC_000019.8:g.7438296G>A	NCBI36
NG_047135.1:g.123500G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000319670.14:c.2165G>A	ENSP00000319200.8:p.Arg722His
ENST00000359920.11:c.2480G>A	ENSP00000352995.5:p.Arg827His
ENST00000594665.2:c.2168G>A	ENSP00000470729.2:p.Arg723His
ENST00000617428.4:c.2168G>A	ENSP00000482647.4:p.Arg723His
ENST00000668164.2:c.3206G>A MANE Select	ENSP00000499655.2:p.Arg1069His
ENST00000319670.13:c.2168G>A	ENSP00000319200.7:p.Arg723His
ENST00000359920.10:c.2642G>A	ENSP00000352995.4:p.Arg881His
ENST00000594665.1:c.1557G>A
ENST00000617428.2:c.2442G>A
NM_001130955.1:c.2642G>A	NP_001124427.1:p.Arg881His
NM_015318.3:c.2168G>A	NP_056133.2:p.Arg723His
XM_005272464.3:c.3401G>A	XP_005272521.1:p.Arg1134His
XM_006722705.2:c.3206G>A	XP_006722768.1:p.Arg1069His
XM_006722706.2:c.3206G>A	XP_006722769.1:p.Arg1069His
XM_006722708.2:c.2168G>A	XP_006722771.1:p.Arg723His
XM_006722709.2:c.2168G>A	XP_006722772.1:p.Arg723His
XM_011527835.1:c.3401G>A	XP_011526137.1:p.Arg1134His
XM_011527836.1:c.3401G>A	XP_011526138.1:p.Arg1134His
XM_011527837.1:c.3401G>A	XP_011526139.1:p.Arg1134His
XM_011527838.1:c.3206G>A	XP_011526140.1:p.Arg1069His
XM_011527839.1:c.3158G>A	XP_011526141.1:p.Arg1053His
XM_011527840.1:c.2168G>A	XP_011526142.1:p.Arg723His
XM_005272464.4:c.3401G>A	XP_005272521.1:p.Arg1134His
XM_006722705.3:c.3206G>A	XP_006722768.1:p.Arg1069His
XM_006722706.3:c.3206G>A	XP_006722769.1:p.Arg1069His
XM_011527835.2:c.3401G>A	XP_011526137.1:p.Arg1134His
XM_011527836.2:c.3401G>A	XP_011526138.1:p.Arg1134His
XM_011527837.2:c.3401G>A	XP_011526139.1:p.Arg1134His
XM_011527838.3:c.3206G>A	XP_011526140.1:p.Arg1069His
XM_011527839.2:c.3158G>A	XP_011526141.1:p.Arg1053His
XM_011527840.2:c.2168G>A	XP_011526142.1:p.Arg723His
NM_001130955.2:c.2480G>A	NP_001124427.2:p.Arg827His
NM_001367823.1:c.3206G>A MANE Select	NP_001354752.1:p.Arg1069His
NM_001367824.1:c.2168G>A	NP_001354753.1:p.Arg723His
NM_015318.4:c.2168G>A	NP_056133.2:p.Arg723His