Canonical Allele Identifier: CA398014431

Gene: ARHGEF15

Linked Data

• ClinVar Variation Id: 2766605
• ClinVar RCV Id: RCV003590439
• gnomAD v4: 17-8312425-C-A
• MyVariant Identifiers: chr17:g.8215743C>A (hg19) ; chr17:g.8312425C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8312425C>A , CM000679.2:g.8312425C>A	GRCh38
NC_000017.10:g.8215743C>A , CM000679.1:g.8215743C>A	GRCh37
NC_000017.9:g.8156468C>A	NCBI36
NG_034063.1:g.7188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361926.8:c.386C>A MANE Select	ENSP00000355026.3:p.Thr129Lys
ENST00000361926.7:c.386C>A	ENSP00000355026.3:p.Thr129Lys
ENST00000421050.2:c.386C>A	ENSP00000412505.1:p.Thr129Lys
ENST00000455564.3:n.499C>A
ENST00000579439.5:c.386C>A	ENSP00000464540.1:p.Thr129Lys
NM_025014.1:c.386C>A	NP_079290.1:p.Thr129Lys
NM_173728.3:c.386C>A	NP_776089.2:p.Thr129Lys
XM_011523734.1:c.386C>A	XP_011522036.1:p.Thr129Lys
XM_011523735.1:c.386C>A	XP_011522037.1:p.Thr129Lys
XM_011523736.1:c.386C>A	XP_011522038.1:p.Thr129Lys
XM_011523734.2:c.386C>A	XP_011522036.1:p.Thr129Lys
XM_011523736.2:c.386C>A	XP_011522038.1:p.Thr129Lys
NM_173728.4:c.386C>A MANE Select	NP_776089.2:p.Thr129Lys
NM_025014.2:c.386C>A	NP_079290.1:p.Thr129Lys