Canonical Allele Identifier: CA9136876

Gene: ARHGEF18

Linked Data

• ClinVar Variation Id: 971686
• ClinVar RCV Id: RCV001247520
• dbSNP Id: rs568146544
• ExAC: 19:7527049 A / G
• gnomAD v2: 19-7527049-A-G
• gnomAD v3: 19-7462163-A-G
• gnomAD v4: 19-7462163-A-G
• MyVariant Identifiers: chr19:g.7527049A>G (hg19) ; chr19:g.7462163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7462163A>G , CM000681.2:g.7462163A>G	GRCh38
NC_000019.9:g.7527049A>G , CM000681.1:g.7527049A>G	GRCh37
NC_000019.8:g.7433049A>G	NCBI36
NG_047135.1:g.118253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319670.14:c.1426A>G	ENSP00000319200.8:p.Met476Val
ENST00000359920.11:c.1738A>G	ENSP00000352995.5:p.Met580Val
ENST00000594665.2:c.1426A>G	ENSP00000470729.2:p.Met476Val
ENST00000617428.4:c.1426A>G	ENSP00000482647.4:p.Met476Val
ENST00000668164.2:c.2464A>G MANE Select	ENSP00000499655.2:p.Met822Val
ENST00000319670.13:c.1426A>G	ENSP00000319200.7:p.Met476Val
ENST00000359920.10:c.1900A>G	ENSP00000352995.4:p.Met634Val
ENST00000594665.1:c.833A>G
ENST00000617428.2:c.1700A>G
NM_001130955.1:c.1900A>G	NP_001124427.1:p.Met634Val
NM_015318.3:c.1426A>G	NP_056133.2:p.Met476Val
XM_005272464.3:c.2659A>G	XP_005272521.1:p.Met887Val
XM_006722705.2:c.2464A>G	XP_006722768.1:p.Met822Val
XM_006722706.2:c.2464A>G	XP_006722769.1:p.Met822Val
XM_006722708.2:c.1426A>G	XP_006722771.1:p.Met476Val
XM_006722709.2:c.1426A>G	XP_006722772.1:p.Met476Val
XM_011527835.1:c.2659A>G	XP_011526137.1:p.Met887Val
XM_011527836.1:c.2659A>G	XP_011526138.1:p.Met887Val
XM_011527837.1:c.2659A>G	XP_011526139.1:p.Met887Val
XM_011527838.1:c.2464A>G	XP_011526140.1:p.Met822Val
XM_011527839.1:c.2416A>G	XP_011526141.1:p.Met806Val
XM_011527840.1:c.1426A>G	XP_011526142.1:p.Met476Val
XM_011527841.1:c.2659A>G	XP_011526143.1:p.Met887Val
XM_005272464.4:c.2659A>G	XP_005272521.1:p.Met887Val
XM_006722705.3:c.2464A>G	XP_006722768.1:p.Met822Val
XM_006722706.3:c.2464A>G	XP_006722769.1:p.Met822Val
XM_011527835.2:c.2659A>G	XP_011526137.1:p.Met887Val
XM_011527836.2:c.2659A>G	XP_011526138.1:p.Met887Val
XM_011527837.2:c.2659A>G	XP_011526139.1:p.Met887Val
XM_011527838.3:c.2464A>G	XP_011526140.1:p.Met822Val
XM_011527839.2:c.2416A>G	XP_011526141.1:p.Met806Val
XM_011527840.2:c.1426A>G	XP_011526142.1:p.Met476Val
XM_011527841.2:c.2659A>G	XP_011526143.1:p.Met887Val
NM_001130955.2:c.1738A>G	NP_001124427.2:p.Met580Val
NM_001367823.1:c.2464A>G MANE Select	NP_001354752.1:p.Met822Val
NM_001367824.1:c.1426A>G	NP_001354753.1:p.Met476Val
NM_015318.4:c.1426A>G	NP_056133.2:p.Met476Val