Canonical Allele Identifier: CA8374831

Gene: ARHGEF15

Linked Data

• ClinVar Variation Id: 412676
• ClinVar RCV Id: RCV000471432 ; RCV004022912
• dbSNP Id: rs139532485
• ExAC: 17:8215679 G / A
• gnomAD v2: 17-8215679-G-A
• gnomAD v3: 17-8312361-G-A
• gnomAD v4: 17-8312361-G-A
• MyVariant Identifiers: chr17:g.8215679G>A (hg19) ; chr17:g.8312361G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8312361G>A , CM000679.2:g.8312361G>A	GRCh38
NC_000017.10:g.8215679G>A , CM000679.1:g.8215679G>A	GRCh37
NC_000017.9:g.8156404G>A	NCBI36
NG_034063.1:g.7124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361926.8:c.322G>A MANE Select	ENSP00000355026.3:p.Ala108Thr
ENST00000361926.7:c.322G>A	ENSP00000355026.3:p.Ala108Thr
ENST00000421050.2:c.322G>A	ENSP00000412505.1:p.Ala108Thr
ENST00000455564.3:n.435G>A
ENST00000579439.5:c.322G>A	ENSP00000464540.1:p.Ala108Thr
ENST00000583529.1:c.322G>A	ENSP00000462796.1:p.Ala108Thr
NM_025014.1:c.322G>A	NP_079290.1:p.Ala108Thr
NM_173728.3:c.322G>A	NP_776089.2:p.Ala108Thr
XM_011523734.1:c.322G>A	XP_011522036.1:p.Ala108Thr
XM_011523735.1:c.322G>A	XP_011522037.1:p.Ala108Thr
XM_011523736.1:c.322G>A	XP_011522038.1:p.Ala108Thr
XM_011523734.2:c.322G>A	XP_011522036.1:p.Ala108Thr
XM_011523736.2:c.322G>A	XP_011522038.1:p.Ala108Thr
NM_173728.4:c.322G>A MANE Select	NP_776089.2:p.Ala108Thr
NM_025014.2:c.322G>A	NP_079290.1:p.Ala108Thr