Canonical Allele Identifier: CA403081127

Gene: ARHGEF18

Linked Data

• ClinVar Variation Id: 1001201
• ClinVar RCV Id: RCV001297456
• dbSNP Id: rs768805520
• MyVariant Identifiers: chr19:g.7527127G>C (hg19) ; chr19:g.7462241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7462241G>C , CM000681.2:g.7462241G>C	GRCh38
NC_000019.9:g.7527127G>C , CM000681.1:g.7527127G>C	GRCh37
NC_000019.8:g.7433127G>C	NCBI36
NG_047135.1:g.118331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319670.14:c.1504G>C	ENSP00000319200.8:p.Glu502Gln
ENST00000359920.11:c.1816G>C	ENSP00000352995.5:p.Glu606Gln
ENST00000594665.2:c.1504G>C	ENSP00000470729.2:p.Glu502Gln
ENST00000617428.4:c.1504G>C	ENSP00000482647.4:p.Glu502Gln
ENST00000668164.2:c.2542G>C MANE Select	ENSP00000499655.2:p.Glu848Gln
ENST00000319670.13:c.1504G>C	ENSP00000319200.7:p.Glu502Gln
ENST00000359920.10:c.1978G>C	ENSP00000352995.4:p.Glu660Gln
ENST00000594665.1:c.911G>C
ENST00000617428.2:c.1778G>C
NM_001130955.1:c.1978G>C	NP_001124427.1:p.Glu660Gln
NM_015318.3:c.1504G>C	NP_056133.2:p.Glu502Gln
XM_005272464.3:c.2737G>C	XP_005272521.1:p.Glu913Gln
XM_006722705.2:c.2542G>C	XP_006722768.1:p.Glu848Gln
XM_006722706.2:c.2542G>C	XP_006722769.1:p.Glu848Gln
XM_006722708.2:c.1504G>C	XP_006722771.1:p.Glu502Gln
XM_006722709.2:c.1504G>C	XP_006722772.1:p.Glu502Gln
XM_011527835.1:c.2737G>C	XP_011526137.1:p.Glu913Gln
XM_011527836.1:c.2737G>C	XP_011526138.1:p.Glu913Gln
XM_011527837.1:c.2737G>C	XP_011526139.1:p.Glu913Gln
XM_011527838.1:c.2542G>C	XP_011526140.1:p.Glu848Gln
XM_011527839.1:c.2494G>C	XP_011526141.1:p.Glu832Gln
XM_011527840.1:c.1504G>C	XP_011526142.1:p.Glu502Gln
XM_011527841.1:c.2737G>C	XP_011526143.1:p.Glu913Gln
XM_005272464.4:c.2737G>C	XP_005272521.1:p.Glu913Gln
XM_006722705.3:c.2542G>C	XP_006722768.1:p.Glu848Gln
XM_006722706.3:c.2542G>C	XP_006722769.1:p.Glu848Gln
XM_011527835.2:c.2737G>C	XP_011526137.1:p.Glu913Gln
XM_011527836.2:c.2737G>C	XP_011526138.1:p.Glu913Gln
XM_011527837.2:c.2737G>C	XP_011526139.1:p.Glu913Gln
XM_011527838.3:c.2542G>C	XP_011526140.1:p.Glu848Gln
XM_011527839.2:c.2494G>C	XP_011526141.1:p.Glu832Gln
XM_011527840.2:c.1504G>C	XP_011526142.1:p.Glu502Gln
XM_011527841.2:c.2737G>C	XP_011526143.1:p.Glu913Gln
NM_001130955.2:c.1816G>C	NP_001124427.2:p.Glu606Gln
NM_001367823.1:c.2542G>C MANE Select	NP_001354752.1:p.Glu848Gln
NM_001367824.1:c.1504G>C	NP_001354753.1:p.Glu502Gln
NM_015318.4:c.1504G>C	NP_056133.2:p.Glu502Gln