Canonical Allele Identifier: CA4599578

Gene: ARHGEF10

Linked Data

• ClinVar Variation Id: 2989591
• ClinVar RCV Id: RCV003842222
• dbSNP Id: rs547614439
• ExAC: 8:1806171 G / C
• gnomAD v2: 8-1806171-G-C
• gnomAD v3: 8-1858005-G-C
• gnomAD v4: 8-1858005-G-C
• MyVariant Identifiers: chr8:g.1806171G>C (hg19) ; chr8:g.1858005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1858005G>C , CM000670.2:g.1858005G>C	GRCh38
NC_000008.10:g.1806171G>C , CM000670.1:g.1806171G>C	GRCh37
NC_000008.9:g.1793578G>C	NCBI36
NG_008480.1:g.39023G>C , LRG_234:g.39023G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349830.8:c.83G>C MANE Select	ENSP00000340297.3:p.Gly28Ala
ENST00000635773.1:c.542G>C
ENST00000635855.1:c.*34G>C	ENSP00000489726.1:n.*34G>C
ENST00000636175.1:c.473G>C
ENST00000349830.7:c.83G>C	ENSP00000340297.3:p.Gly28Ala
ENST00000398564.5:c.155G>C	ENSP00000381571.1:p.Gly52Ala
ENST00000518288.5:c.155G>C	ENSP00000431012.1:p.Gly52Ala
ENST00000520359.5:c.83G>C	ENSP00000427909.1:p.Gly28Ala
NM_001308152.1:c.83G>C	NP_001295081.1:p.Gly28Ala
NM_001308153.1:c.155G>C	NP_001295082.1:p.Gly52Ala
NM_014629.2:c.83G>C , LRG_234t1:c.83G>C	NP_055444.2:p.Gly28Ala
NM_014629.3:c.83G>C	NP_055444.2:p.Gly28Ala
XM_005266041.2:c.83G>C	XP_005266098.1:p.Gly28Ala
XM_011534766.1:c.83G>C	XP_011533068.1:p.Gly28Ala
XM_011534767.1:c.83G>C	XP_011533069.1:p.Gly28Ala
XM_011534768.1:c.83G>C	XP_011533070.1:p.Gly28Ala
XM_011534769.1:c.38G>C	XP_011533071.1:p.Gly13Ala
XM_011534770.1:c.83G>C	XP_011533072.1:p.Gly28Ala
XM_005266041.4:c.83G>C	XP_005266098.1:p.Gly28Ala
XM_011534767.2:c.83G>C	XP_011533069.1:p.Gly28Ala
XM_011534770.2:c.83G>C	XP_011533072.1:p.Gly28Ala
XM_017014003.1:c.155G>C	XP_016869492.1:p.Gly52Ala
XM_024447334.1:c.83G>C	XP_024303102.1:p.Gly28Ala
XM_024447335.1:c.167G>C	XP_024303103.1:p.Gly56Ala
NM_014629.4:c.83G>C MANE Select	NP_055444.2:p.Gly28Ala
NM_001308152.2:c.83G>C	NP_001295081.1:p.Gly28Ala
NM_001308153.2:c.155G>C	NP_001295082.1:p.Gly52Ala