Canonical Allele Identifier: CA2462067
Gene: ARHGEF3 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.56737223A>T , CM000665.2:g.56737223A>T GRCh38
NC_000003.11:g.56771251A>T , CM000665.1:g.56771251A>T GRCh37
NC_000003.10:g.56746291A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296315.8:c.1003T>A MANE Select ENSP00000296315.3:p.Leu335Met
ENST00000296315.7:c.1003T>A ENSP00000296315.3:p.Leu335Met
ENST00000338458.8:c.1099T>A ENSP00000341071.4:p.Leu367Met
ENST00000413728.6:c.1021T>A ENSP00000410922.2:p.Leu341Met
ENST00000465659.5:c.1077T>A
ENST00000495373.5:c.1003T>A ENSP00000417986.1:p.Leu335Met
ENST00000496106.5:c.1021T>A ENSP00000420420.1:p.Leu341Met
ENST00000497267.5:c.916T>A ENSP00000418826.1:p.Leu306Met
NM_001128615.1:c.1099T>A NP_001122087.1:p.Leu367Met
NM_001128616.1:c.1021T>A NP_001122088.1:p.Leu341Met
NM_001289698.1:c.1021T>A NP_001276627.1:p.Leu341Met
NM_019555.2:c.1003T>A NP_062455.1:p.Leu335Met
XM_005265186.3:c.1099T>A XP_005265243.1:p.Leu367Met
XM_005265187.2:c.1099T>A XP_005265244.1:p.Leu367Met
XM_005265188.3:c.1039T>A XP_005265245.1:p.Leu347Met
XM_011533764.1:c.1057T>A XP_011532066.1:p.Leu353Met
XM_011533765.1:c.1006T>A XP_011532067.1:p.Leu336Met
XM_011533766.1:c.1006T>A XP_011532068.1:p.Leu336Met
XM_011533767.1:c.661T>A XP_011532069.1:p.Leu221Met
XM_005265186.5:c.1099T>A XP_005265243.1:p.Leu367Met
XM_005265187.3:c.1099T>A XP_005265244.1:p.Leu367Met
XM_011533766.2:c.1006T>A XP_011532068.1:p.Leu336Met
XM_017006502.1:c.1039T>A XP_016861991.1:p.Leu347Met
XM_017006503.1:c.1099T>A XP_016861992.1:p.Leu367Met
XM_017006504.1:c.1039T>A XP_016861993.1:p.Leu347Met
XM_017006505.1:c.1003T>A XP_016861994.1:p.Leu335Met
XM_017006506.2:c.1021T>A XP_016861995.1:p.Leu341Met
XM_024453546.1:c.1039T>A XP_024309314.1:p.Leu347Met
XM_024453547.1:c.1039T>A XP_024309315.1:p.Leu347Met
NM_001128615.2:c.1099T>A NP_001122087.1:p.Leu367Met
NM_001128616.2:c.1021T>A NP_001122088.1:p.Leu341Met
NM_001289698.2:c.1021T>A NP_001276627.1:p.Leu341Met
NM_001377407.1:c.1099T>A NP_001364336.1:p.Leu367Met
NM_001377408.1:c.1039T>A NP_001364337.1:p.Leu347Met
NM_001377409.1:c.1039T>A NP_001364338.1:p.Leu347Met
NM_001377410.1:c.1039T>A NP_001364339.1:p.Leu347Met
NM_001377411.1:c.1006T>A NP_001364340.1:p.Leu336Met
NM_001377412.1:c.1006T>A NP_001364341.1:p.Leu336Met
NM_001377413.1:c.1021T>A NP_001364342.1:p.Leu341Met
NM_001377414.1:c.1003T>A NP_001364343.1:p.Leu335Met
NM_001377415.1:c.1003T>A NP_001364344.1:p.Leu335Met
NM_019555.3:c.1003T>A MANE Select NP_062455.1:p.Leu335Met