Canonical Allele Identifier: CA360110544
Gene: ARHGEF28 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.73776529T>A , CM000667.2:g.73776529T>A GRCh38
NC_000005.9:g.73072354T>A , CM000667.1:g.73072354T>A GRCh37
NC_000005.8:g.73108110T>A NCBI36
NG_017198.1:g.155372T>A
NG_017198.2:g.155372T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513042.7:c.673T>A MANE Select ENSP00000441436.1:p.Trp225Arg
ENST00000296794.10:c.673T>A ENSP00000296794.6:p.Trp225Arg
ENST00000426542.6:c.673T>A ENSP00000412175.2:p.Trp225Arg
ENST00000437974.5:c.673T>A ENSP00000411459.1:p.Trp225Arg
ENST00000513042.6:c.673T>A ENSP00000441436.1:p.Trp225Arg
ENST00000545377.5:c.673T>A ENSP00000441913.1:p.Trp225Arg
NM_001080479.2:c.673T>A NP_001073948.2:p.Trp225Arg
NM_001177693.1:c.673T>A NP_001171164.1:p.Trp225Arg
XM_011543545.1:c.733T>A XP_011541847.1:p.Trp245Arg
XM_011543546.1:c.673T>A XP_011541848.1:p.Trp225Arg
XM_011543547.1:c.667T>A XP_011541849.1:p.Trp223Arg
XM_011543548.1:c.733T>A XP_011541850.1:p.Trp245Arg
XM_011543549.1:c.643T>A XP_011541851.1:p.Trp215Arg
XM_011543550.1:c.634T>A XP_011541852.1:p.Trp212Arg
XM_011543546.2:c.673T>A XP_011541848.1:p.Trp225Arg
XM_011543547.2:c.667T>A XP_011541849.1:p.Trp223Arg
XM_017009702.1:c.379T>A XP_016865191.1:p.Trp127Arg
NM_001080479.3:c.673T>A NP_001073948.2:p.Trp225Arg
NM_001177693.2:c.673T>A MANE Select NP_001171164.1:p.Trp225Arg
NM_001388076.1:c.379T>A NP_001375005.1:p.Trp127Arg
NM_001388078.1:c.673T>A NP_001375007.1:p.Trp225Arg