Canonical Allele Identifier: CA235236173
Community Standard Title: NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter)
Gene: FGD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32625690C>T , CM000674.2:g.32625690C>T GRCh38
NC_000012.11:g.32778624C>T , CM000674.1:g.32778624C>T GRCh37
NC_000012.10:g.32669891C>T NCBI36
NG_008626.2:g.231162C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001370298.3:c.2083C>T MANE Select NP_001357227.2:p.Arg695Ter
ENST00000534526.7:c.2083C>T MANE Select ENSP00000449273.1:p.Arg695Ter
NM_001304480.1:c.2008C>T NP_001291409.1:p.Arg670Ter
NM_001304481.1:c.1927C>T NP_001291410.1:p.Arg643Ter
NM_001304483.1:c.928C>T NP_001291412.1:p.Arg310Ter
NM_001304483.2:c.928C>T NP_001291412.1:p.Arg310Ter
NM_001304484.1:c.640C>T NP_001291413.1:p.Arg214Ter
NM_001304484.2:c.640C>T NP_001291413.1:p.Arg214Ter
NM_001330373.1:c.1393C>T NP_001317302.1:p.Arg465Ter
NM_001330373.2:c.1393C>T NP_001317302.1:p.Arg465Ter
NM_001330374.1:c.1393C>T NP_001317303.1:p.Arg465Ter
NM_001330374.2:c.1393C>T NP_001317303.1:p.Arg465Ter
NM_001370297.1:c.1120C>T NP_001357226.1:p.Arg374Ter
NM_001370298.1:c.2164C>T NP_001357227.1:p.Arg722Ter
NM_001384126.1:c.2083C>T NP_001371055.1:p.Arg695Ter
NM_001384127.1:c.1672C>T NP_001371056.1:p.Arg558Ter
NM_001384128.1:c.1672C>T NP_001371057.1:p.Arg558Ter
NM_001384130.1:c.1393C>T NP_001371059.1:p.Arg465Ter
NM_001385118.1:c.1672C>T NP_001372047.1:p.Arg558Ter
NM_139241.3:c.1672C>T NP_640334.2:p.Arg558Ter
ENST00000395740.5:c.*1064C>T ENSP00000379089.1:n.*1064C>T
ENST00000427716.6:c.1672C>T ENSP00000394487.2:p.Arg558Ter
ENST00000427716.7:c.1672C>T ENSP00000394487.2:p.Arg558Ter
ENST00000493087.5:c.*1083C>T ENSP00000437109.1:n.*1083C>T
ENST00000494977.1:c.1354C>T
ENST00000525053.5:c.2008C>T ENSP00000433666.1:p.Arg670Ter
ENST00000525053.6:c.1672C>T ENSP00000433666.2:p.Arg558Ter
ENST00000531134.5:c.1927C>T ENSP00000431323.1:p.Arg643Ter
ENST00000531134.6:c.1927C>T ENSP00000431323.1:p.Arg643Ter
ENST00000531134.7:c.1927C>T ENSP00000431323.1:p.Arg643Ter
ENST00000534526.6:c.2083C>T ENSP00000449273.1:p.Arg695Ter
ENST00000546442.5:c.1393C>T ENSP00000446695.1:p.Arg465Ter
ENST00000551984.5:c.*1041C>T ENSP00000449614.1:n.*1041C>T
ENST00000583694.2:c.1672C>T ENSP00000462623.2:p.Arg558Ter
ENST00000682739.1:c.1393C>T ENSP00000507616.1:p.Arg465Ter
ENST00000683182.1:c.484C>T ENSP00000507831.1:p.Arg162Ter
ENST00000683515.1:n.1179C>T
ENST00000684033.1:n.470C>T
XM_005253304.3:c.2164C>T XP_005253361.1:p.Arg722Ter
XM_005253304.4:c.2164C>T XP_005253361.1:p.Arg722Ter
XM_005253307.2:c.1393C>T XP_005253364.1:p.Arg465Ter
XM_005253308.3:c.1393C>T XP_005253365.1:p.Arg465Ter
XM_005253308.5:c.1393C>T XP_005253365.1:p.Arg465Ter
XM_005253309.1:c.1393C>T XP_005253366.1:p.Arg465Ter
XM_005253310.3:c.928C>T XP_005253367.1:p.Arg310Ter
XM_005253310.4:c.928C>T XP_005253367.1:p.Arg310Ter
XM_011520554.1:c.1966C>T XP_011518856.1:p.Arg656Ter
XM_011520555.1:c.1672C>T XP_011518857.1:p.Arg558Ter
XM_011520556.1:c.1672C>T XP_011518858.1:p.Arg558Ter
XM_011520557.1:c.1120C>T XP_011518859.1:p.Arg374Ter
XM_011520558.1:c.1075C>T XP_011518860.1:p.Arg359Ter
XM_011520558.2:c.1075C>T XP_011518860.1:p.Arg359Ter
XM_011520559.1:c.907C>T XP_011518861.1:p.Arg303Ter
XM_011520559.3:c.907C>T XP_011518861.1:p.Arg303Ter
XM_017018803.1:c.2164C>T XP_016874292.1:p.Arg722Ter
XM_017018805.1:c.1120C>T XP_016874294.1:p.Arg374Ter
XM_024448837.1:c.1393C>T XP_024304605.1:p.Arg465Ter
XM_024448838.1:c.1393C>T XP_024304606.1:p.Arg465Ter
XM_024448839.1:c.1393C>T XP_024304607.1:p.Arg465Ter
XM_024448840.1:c.781C>T XP_024304608.1:p.Arg261Ter