Canonical Allele Identifier: CA187711113
Gene: ARHGAP39 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.144533250C>T
GRCh37 chr8:g.145758634C>T
Revel Score:
ENST00000276826 0.077
ENST00000377307 (MANE Select) 0.077
ENST00000540274 0.077
gnomAD v2:
8:145758634 C / T
gnomAD v3:
8:144533250 C / T
gnomAD v4:
chr8-144533250-C-T
Joint Max Group AF 0.00001744 (AFR)
Genomes Max Group AF 0.00001914 (AFR)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar Allele:
2220309
ClinVar RCV:
RCV004095732
ClinVar Variation:
2232160
dbSNP:
371456040
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144533250C>T , CM000670.2:g.144533250C>T GRCh38
NC_000008.10:g.145758634C>T , CM000670.1:g.145758634C>T GRCh37
NC_000008.9:g.145729442C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377307.7:c.2764G>A MANE Select ENSP00000366522.2:p.Ala922Thr
ENST00000276826.5:c.2671G>A ENSP00000276826.5:p.Ala891Thr
ENST00000377307.6:c.2764G>A ENSP00000366522.2:p.Ala922Thr
NM_001308207.1:c.2671G>A NP_001295136.1:p.Ala891Thr
NM_001308208.1:c.2671G>A NP_001295137.1:p.Ala891Thr
NM_025251.1:c.2764G>A NP_079527.1:p.Ala922Thr
NM_025251.2:c.2764G>A NP_079527.1:p.Ala922Thr
XM_011517308.1:c.2764G>A XP_011515610.1:p.Ala922Thr
XM_011517309.1:c.2764G>A XP_011515611.1:p.Ala922Thr
XM_011517311.1:c.2332G>A XP_011515613.1:p.Ala778Thr
XM_011517312.1:c.2293G>A XP_011515614.1:p.Ala765Thr
XM_011517309.2:c.2764G>A XP_011515611.1:p.Ala922Thr
XM_011517312.2:c.2293G>A XP_011515614.1:p.Ala765Thr
XM_017013870.2:c.2764G>A XP_016869359.1:p.Ala922Thr
NM_001308208.2:c.2671G>A NP_001295137.1:p.Ala891Thr
NM_025251.3:c.2764G>A MANE Select NP_079527.1:p.Ala922Thr
Search 100 bp 5'
Search 100 bp 3'