Canonical Allele Identifier: CA16605472

Gene: ARHGEF10

Linked Data

• ClinVar Variation Id: 388721
• ClinVar RCV Id: RCV000421442 ; RCV001330527
• dbSNP Id: rs1057523214
• MyVariant Identifiers: chr8:g.1857627G>T (hg19) ; chr8:g.1909461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1909461G>T , CM000670.2:g.1909461G>T	GRCh38
NC_000008.10:g.1857627G>T , CM000670.1:g.1857627G>T	GRCh37
NC_000008.9:g.1845034G>T	NCBI36
NG_008480.1:g.90479G>T , LRG_234:g.90479G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349830.8:c.2134G>T MANE Select	ENSP00000340297.3:p.Ala712Ser
ENST00000635773.1:c.2662G>T
ENST00000635855.1:c.*2088G>T	ENSP00000489726.1:n.*2088G>T
ENST00000349830.7:c.2134G>T	ENSP00000340297.3:p.Ala712Ser
ENST00000398564.5:c.2209G>T	ENSP00000381571.1:p.Ala737Ser
ENST00000518288.5:c.2206G>T	ENSP00000431012.1:p.Ala736Ser
ENST00000520359.5:c.2020G>T	ENSP00000427909.1:p.Ala674Ser
ENST00000522435.5:c.1153G>T	ENSP00000427768.1:p.Ala385Ser
ENST00000523711.5:n.1858G>T
ENST00000524212.1:n.390G>T
NM_001308152.1:c.2020G>T	NP_001295081.1:p.Ala674Ser
NM_001308153.1:c.2206G>T	NP_001295082.1:p.Ala736Ser
NM_014629.2:c.2134G>T , LRG_234t1:c.2134G>T	NP_055444.2:p.Ala712Ser
NM_014629.3:c.2134G>T	NP_055444.2:p.Ala712Ser
XM_005266041.2:c.2137G>T	XP_005266098.1:p.Ala713Ser
XM_011534766.1:c.2137G>T	XP_011533068.1:p.Ala713Ser
XM_011534767.1:c.2017G>T	XP_011533069.1:p.Ala673Ser
XM_011534768.1:c.2137G>T	XP_011533070.1:p.Ala713Ser
XM_011534769.1:c.2092G>T	XP_011533071.1:p.Ala698Ser
XM_011534770.1:c.2137G>T	XP_011533072.1:p.Ala713Ser
XM_005266041.4:c.2137G>T	XP_005266098.1:p.Ala713Ser
XM_011534767.2:c.2017G>T	XP_011533069.1:p.Ala673Ser
XM_011534770.2:c.2137G>T	XP_011533072.1:p.Ala713Ser
XM_017014003.1:c.2209G>T	XP_016869492.1:p.Ala737Ser
XM_024447334.1:c.2137G>T	XP_024303102.1:p.Ala713Ser
XM_024447335.1:c.2221G>T	XP_024303103.1:p.Ala741Ser
NM_014629.4:c.2134G>T MANE Select	NP_055444.2:p.Ala712Ser
NM_001308152.2:c.2020G>T	NP_001295081.1:p.Ala674Ser
NM_001308153.2:c.2206G>T	NP_001295082.1:p.Ala736Ser