Canonical Allele Identifier: CA413401353

Gene: ARHGEF9

Linked Data

• ClinVar Variation Id: 465077
• ClinVar RCV Id: RCV000543215
• dbSNP Id: rs1556301359
• MyVariant Identifiers: chrX:g.62858060A>G (hg19) ; chrX:g.63638180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.63638180A>G , CM000685.2:g.63638180A>G	GRCh38
NC_000023.10:g.62858060A>G , CM000685.1:g.62858060A>G	GRCh37
NC_000023.9:g.62774785A>G	NCBI36
NG_016975.1:g.152367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624538.2:c.1336T>C	ENSP00000485282.2:p.Ser446Pro
ENST00000635729.1:c.1438T>C	ENSP00000490940.1:p.Ser480Pro
ENST00000635967.1:c.1336T>C	ENSP00000490691.1:p.Ser446Pro
ENST00000636048.1:c.1336T>C	ENSP00000490063.1:p.Ser446Pro
ENST00000636102.1:c.*1277T>C	ENSP00000490693.1:n.*1277T>C
ENST00000636392.1:c.1336T>C	ENSP00000489853.1:p.Ser446Pro
ENST00000637040.1:c.1213T>C	ENSP00000490459.1:p.Ser405Pro
ENST00000637178.1:c.1336T>C	ENSP00000489862.1:p.Ser446Pro
ENST00000637417.1:c.1336T>C	ENSP00000490269.1:p.Ser446Pro
ENST00000637520.1:c.1336T>C	ENSP00000490123.1:p.Ser446Pro
ENST00000637557.1:c.1336T>C	ENSP00000490679.1:p.Ser446Pro
ENST00000637723.2:c.1336T>C	ENSP00000489637.2:p.Ser446Pro
ENST00000638021.1:c.1336T>C	ENSP00000490410.1:p.Ser446Pro
ENST00000639092.1:c.*1297T>C	ENSP00000492318.1:n.*1297T>C
ENST00000671741.2:c.1420T>C MANE Select	ENSP00000500715.1:p.Ser474Pro
ENST00000671907.1:c.1399T>C	ENSP00000500829.1:p.Ser467Pro
ENST00000672194.1:c.1318T>C	ENSP00000499905.1:p.Ser440Pro
ENST00000672513.1:c.1204T>C	ENSP00000500825.1:p.Ser402Pro
ENST00000253401.10:c.1399T>C	ENSP00000253401.6:p.Ser467Pro
ENST00000374870.8:c.1399T>C	ENSP00000364004.5:p.Ser467Pro
ENST00000374872.4:c.1336T>C	ENSP00000364006.1:p.Ser446Pro
ENST00000374878.5:c.1375-2772T>C	ENSP00000364012.2:n.1375-2772T>C
ENST00000437457.6:c.*78T>C	ENSP00000399994.3:n.*78T>C
ENST00000466925.4:c.332T>C
ENST00000495564.5:c.*1124T>C	ENSP00000485633.1:n.*1124T>C
ENST00000498761.5:n.317T>C
ENST00000623517.3:c.1240T>C	ENSP00000485369.1:p.Ser414Pro
ENST00000624210.3:c.1336T>C	ENSP00000485144.1:p.Ser446Pro
ENST00000624783.3:n.429T>C
ENST00000624843.3:c.1093T>C	ENSP00000485626.1:p.Ser365Pro
NM_001173479.1:c.1240T>C	NP_001166950.1:p.Ser414Pro
NM_001173480.1:c.1093T>C	NP_001166951.1:p.Ser365Pro
NM_015185.2:c.1399T>C	NP_056000.1:p.Ser467Pro
XM_005262249.1:c.1420T>C	XP_005262306.1:p.Ser474Pro
XM_005262250.3:c.1336T>C	XP_005262307.1:p.Ser446Pro
XM_005262251.1:c.1336T>C	XP_005262308.1:p.Ser446Pro
XM_005262252.1:c.1336T>C	XP_005262309.1:p.Ser446Pro
XM_011530890.1:c.1399T>C	XP_011529192.1:p.Ser467Pro
XM_011530891.1:c.1204T>C	XP_011529193.1:p.Ser402Pro
XM_011530892.1:c.1219T>C	XP_011529194.1:p.Ser407Pro
NM_001330495.1:c.1336T>C	NP_001317424.1:p.Ser446Pro
NM_001353921.1:c.1420T>C	NP_001340850.1:p.Ser474Pro
NM_001353922.1:c.1288T>C	NP_001340851.1:p.Ser430Pro
NM_001353923.1:c.1438T>C	NP_001340852.1:p.Ser480Pro
NM_001353924.1:c.1219T>C	NP_001340853.1:p.Ser407Pro
NM_001353926.1:c.1219T>C	NP_001340855.1:p.Ser407Pro
NM_001353927.1:c.1204T>C	NP_001340856.1:p.Ser402Pro
NM_001353928.1:c.1267T>C	NP_001340857.1:p.Ser423Pro
XM_005262250.4:c.1336T>C	XP_005262307.1:p.Ser446Pro
XM_017029364.1:c.1414T>C	XP_016884853.1:p.Ser472Pro
XM_017029366.1:c.1399T>C	XP_016884855.1:p.Ser467Pro
XM_017029367.1:c.1336T>C	XP_016884856.1:p.Ser446Pro
XM_017029368.2:c.1336T>C	XP_016884857.1:p.Ser446Pro
XM_017029372.1:c.1204T>C	XP_016884861.1:p.Ser402Pro
XM_017029373.2:c.1093T>C	XP_016884862.1:p.Ser365Pro
XM_017029374.2:c.1087T>C	XP_016884863.1:p.Ser363Pro
XM_017029377.2:c.*57T>C	XP_016884866.1:n.*57T>C
XM_017029379.1:c.*57T>C	XP_016884868.1:n.*57T>C
XM_017029380.2:c.*57T>C	XP_016884869.1:n.*57T>C
XM_024452356.1:c.1393T>C	XP_024308124.1:p.Ser465Pro
XM_024452357.1:c.1336T>C	XP_024308125.1:p.Ser446Pro
XM_024452358.1:c.*57T>C	XP_024308126.1:n.*57T>C
NM_001173479.2:c.1240T>C	NP_001166950.1:p.Ser414Pro
NM_001173480.2:c.1093T>C	NP_001166951.1:p.Ser365Pro
NM_001330495.2:c.1336T>C	NP_001317424.1:p.Ser446Pro
NM_001353921.2:c.1420T>C MANE Select	NP_001340850.1:p.Ser474Pro
NM_001353922.2:c.1288T>C	NP_001340851.1:p.Ser430Pro
NM_001353924.2:c.1219T>C	NP_001340853.1:p.Ser407Pro
NM_001353926.2:c.1219T>C	NP_001340855.1:p.Ser407Pro
NM_001353927.2:c.1204T>C	NP_001340856.1:p.Ser402Pro
NM_001353928.2:c.1267T>C	NP_001340857.1:p.Ser423Pro
NM_001369030.1:c.1399T>C	NP_001355959.1:p.Ser467Pro
NM_001369031.1:c.1399T>C	NP_001355960.1:p.Ser467Pro
NM_001369032.1:c.1399T>C	NP_001355961.1:p.Ser467Pro
NM_001369033.1:c.1336T>C	NP_001355962.1:p.Ser446Pro
NM_001369034.1:c.1336T>C	NP_001355963.1:p.Ser446Pro
NM_001369035.1:c.1336T>C	NP_001355964.1:p.Ser446Pro
NM_001369036.1:c.1336T>C	NP_001355965.1:p.Ser446Pro
NM_001369037.1:c.1336T>C	NP_001355966.1:p.Ser446Pro
NM_001369038.1:c.1336T>C	NP_001355967.1:p.Ser446Pro
NM_001369039.1:c.1219T>C	NP_001355968.1:p.Ser407Pro
NM_001369040.1:c.1219T>C	NP_001355969.1:p.Ser407Pro
NM_001369041.1:c.1204T>C	NP_001355970.1:p.Ser402Pro
NM_001369042.1:c.1093T>C	NP_001355971.1:p.Ser365Pro
NM_001369043.1:c.*57T>C	NP_001355972.1:n.*57T>C
NM_001369044.1:c.*57T>C	NP_001355973.1:n.*57T>C
NM_001369045.1:c.853T>C	NP_001355974.1:p.Ser285Pro
NM_015185.3:c.1399T>C	NP_056000.1:p.Ser467Pro