Canonical Allele Identifier: CA8375558
Gene: ARHGEF15 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8320986C>T
GRCh37 chr17:g.8224304C>T
Revel Score:
ENST00000361926 (MANE Select) 0.222
ENST00000455564 0.222
ENST00000421050 0.222
gnomAD v2:
17:8224304 C / T
gnomAD v3:
17:8320986 C / T
gnomAD v4:
chr17-8320986-C-T
Joint Max Group AF 0.00000688 (NFE)
Genomes Max Group AF 0.00002258 (AMR)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar RCV:
RCV001704775
RCV003588658
ClinVar Variation:
516318
dbSNP:
552154823
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8320986C>T , CM000679.2:g.8320986C>T GRCh38
NC_000017.10:g.8224304C>T , CM000679.1:g.8224304C>T GRCh37
NC_000017.9:g.8165029C>T NCBI36
NG_034063.1:g.15749C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361926.8:c.2519C>T MANE Select ENSP00000355026.3:p.Pro840Leu
ENST00000647883.1:c.1982C>T ENSP00000498197.1:p.Pro661Leu
ENST00000361926.7:c.2519C>T ENSP00000355026.3:p.Pro840Leu
ENST00000421050.2:c.2519C>T ENSP00000412505.1:p.Pro840Leu
NM_025014.1:c.2519C>T NP_079290.1:p.Pro840Leu
NM_173728.3:c.2519C>T NP_776089.2:p.Pro840Leu
XM_011523734.1:c.2564C>T XP_011522036.1:p.Pro855Leu
XM_011523735.1:c.2564C>T XP_011522037.1:p.Pro855Leu
XM_011523736.1:c.*136C>T XP_011522038.1:n.*136C>T
XM_011523737.1:c.1313C>T XP_011522039.1:p.Pro438Leu
XM_011523734.2:c.2564C>T XP_011522036.1:p.Pro855Leu
XM_011523736.2:c.*136C>T XP_011522038.1:n.*136C>T
NM_173728.4:c.2519C>T MANE Select NP_776089.2:p.Pro840Leu
NM_025014.2:c.2519C>T NP_079290.1:p.Pro840Leu
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