Canonical Allele Identifier: CA8375161
Gene: ARHGEF15 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8315564G>A
GRCh37 chr17:g.8218882G>A
Revel Score:
ENST00000361926 (MANE Select) 0.230
ENST00000455564 0.230
ENST00000421050 0.230
gnomAD v2:
17:8218882 G / A
gnomAD v3:
17:8315564 G / A
gnomAD v4:
chr17-8315564-G-A
Joint Max Group AF 0.00155149 (AFR)
Genomes Max Group AF 0.00130232 (AFR)
Exomes Max Group AF 0.00164297 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8315564G>A , CM000679.2:g.8315564G>A GRCh38
NC_000017.10:g.8218882G>A , CM000679.1:g.8218882G>A GRCh37
NC_000017.9:g.8159607G>A NCBI36
NG_034063.1:g.10327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361926.8:c.1411G>A MANE Select ENSP00000355026.3:p.Val471Ile
ENST00000647883.1:c.874G>A ENSP00000498197.1:p.Val292Ile
ENST00000361926.7:c.1411G>A ENSP00000355026.3:p.Val471Ile
ENST00000421050.2:c.1411G>A ENSP00000412505.1:p.Val471Ile
ENST00000578286.1:n.459G>A
NM_025014.1:c.1411G>A NP_079290.1:p.Val471Ile
NM_173728.3:c.1411G>A NP_776089.2:p.Val471Ile
XM_011523734.1:c.1411G>A XP_011522036.1:p.Val471Ile
XM_011523735.1:c.1411G>A XP_011522037.1:p.Val471Ile
XM_011523736.1:c.1411G>A XP_011522038.1:p.Val471Ile
XM_011523737.1:c.160G>A XP_011522039.1:p.Val54Ile
XM_011523734.2:c.1411G>A XP_011522036.1:p.Val471Ile
XM_011523736.2:c.1411G>A XP_011522038.1:p.Val471Ile
NM_173728.4:c.1411G>A MANE Select NP_776089.2:p.Val471Ile
NM_025014.2:c.1411G>A NP_079290.1:p.Val471Ile
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