Canonical Allele Identifier: CA413405892

Gene: ARHGEF9

Linked Data

• ClinVar Variation Id: 1436610
• ClinVar RCV Id: RCV001955307
• dbSNP Id: rs2147835608
• MyVariant Identifiers: chrX:g.63005025T>C (hg19) ; chrX:g.63785145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.63785145T>C , CM000685.2:g.63785145T>C	GRCh38
NC_000023.10:g.63005025T>C , CM000685.1:g.63005025T>C	GRCh37
NC_000023.9:g.62921750T>C	NCBI36
NG_016975.1:g.5402A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000671741.2:c.1A>G MANE Select	ENSP00000500715.1:p.Met1Val
ENST00000672467.1:n.70A>G
ENST00000374878.5:c.1A>G	ENSP00000364012.2:p.Met1Val
ENST00000437457.6:c.1A>G	ENSP00000399994.3:p.Met1Val
ENST00000623417.3:c.-118+10371A>G	ENSP00000485083.1:n.-118+10371A>G
ENST00000623517.3:c.1A>G	ENSP00000485369.1:p.Met1Val
ENST00000624355.1:c.-161A>G	ENSP00000485327.1:n.-161A>G
ENST00000625116.3:c.-224A>G	ENSP00000485160.1:n.-224A>G
NM_001173479.1:c.1A>G	NP_001166950.1:p.Met1Val
XM_005262249.1:c.1A>G	XP_005262306.1:p.Met1Val
XM_005262252.1:c.-161A>G	XP_005262309.1:n.-161A>G
NM_001330495.1:c.-161A>G	NP_001317424.1:n.-161A>G
NM_001353921.1:c.1A>G	NP_001340850.1:p.Met1Val
NM_001353922.1:c.1A>G	NP_001340851.1:p.Met1Val
XM_017029378.2:c.1A>G	XP_016884867.1:p.Met1Val
XM_024452358.1:c.-161A>G	XP_024308126.1:n.-161A>G
NM_001173479.2:c.1A>G	NP_001166950.1:p.Met1Val
NM_001330495.2:c.-161A>G	NP_001317424.1:n.-161A>G
NM_001353921.2:c.1A>G MANE Select	NP_001340850.1:p.Met1Val
NM_001353922.2:c.1A>G	NP_001340851.1:p.Met1Val
NM_001369043.1:c.-161A>G	NP_001355972.1:n.-161A>G