Canonical Allele Identifier: CA304856530

Gene: ARHGEF18

Linked Data

• ClinVar Variation Id: 1382947
• ClinVar RCV Id: RCV001924458
• dbSNP Id: rs994698798
• gnomAD v2: 19-7532294-G-C
• gnomAD v3: 19-7467408-G-C
• gnomAD v4: 19-7467408-G-C
• MyVariant Identifiers: chr19:g.7532294G>C (hg19) ; chr19:g.7467408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7467408G>C , CM000681.2:g.7467408G>C	GRCh38
NC_000019.9:g.7532294G>C , CM000681.1:g.7532294G>C	GRCh37
NC_000019.8:g.7438294G>C	NCBI36
NG_047135.1:g.123498G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000319670.14:c.2163G>C	ENSP00000319200.8:p.Gln721His
ENST00000359920.11:c.2478G>C	ENSP00000352995.5:p.Gln826His
ENST00000594665.2:c.2166G>C	ENSP00000470729.2:p.Gln722His
ENST00000617428.4:c.2166G>C	ENSP00000482647.4:p.Gln722His
ENST00000668164.2:c.3204G>C MANE Select	ENSP00000499655.2:p.Gln1068His
ENST00000319670.13:c.2166G>C	ENSP00000319200.7:p.Gln722His
ENST00000359920.10:c.2640G>C	ENSP00000352995.4:p.Gln880His
ENST00000594665.1:c.1555G>C
ENST00000617428.2:c.2440G>C
NM_001130955.1:c.2640G>C	NP_001124427.1:p.Gln880His
NM_015318.3:c.2166G>C	NP_056133.2:p.Gln722His
XM_005272464.3:c.3399G>C	XP_005272521.1:p.Gln1133His
XM_006722705.2:c.3204G>C	XP_006722768.1:p.Gln1068His
XM_006722706.2:c.3204G>C	XP_006722769.1:p.Gln1068His
XM_006722708.2:c.2166G>C	XP_006722771.1:p.Gln722His
XM_006722709.2:c.2166G>C	XP_006722772.1:p.Gln722His
XM_011527835.1:c.3399G>C	XP_011526137.1:p.Gln1133His
XM_011527836.1:c.3399G>C	XP_011526138.1:p.Gln1133His
XM_011527837.1:c.3399G>C	XP_011526139.1:p.Gln1133His
XM_011527838.1:c.3204G>C	XP_011526140.1:p.Gln1068His
XM_011527839.1:c.3156G>C	XP_011526141.1:p.Gln1052His
XM_011527840.1:c.2166G>C	XP_011526142.1:p.Gln722His
XM_005272464.4:c.3399G>C	XP_005272521.1:p.Gln1133His
XM_006722705.3:c.3204G>C	XP_006722768.1:p.Gln1068His
XM_006722706.3:c.3204G>C	XP_006722769.1:p.Gln1068His
XM_011527835.2:c.3399G>C	XP_011526137.1:p.Gln1133His
XM_011527836.2:c.3399G>C	XP_011526138.1:p.Gln1133His
XM_011527837.2:c.3399G>C	XP_011526139.1:p.Gln1133His
XM_011527838.3:c.3204G>C	XP_011526140.1:p.Gln1068His
XM_011527839.2:c.3156G>C	XP_011526141.1:p.Gln1052His
XM_011527840.2:c.2166G>C	XP_011526142.1:p.Gln722His
NM_001130955.2:c.2478G>C	NP_001124427.2:p.Gln826His
NM_001367823.1:c.3204G>C MANE Select	NP_001354752.1:p.Gln1068His
NM_001367824.1:c.2166G>C	NP_001354753.1:p.Gln722His
NM_015318.4:c.2166G>C	NP_056133.2:p.Gln722His