Canonical Allele Identifier: CA384358886
Community Standard Title: NM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys)
Gene: FGD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32602279C>T , CM000674.2:g.32602279C>T GRCh38
NC_000012.11:g.32755213C>T , CM000674.1:g.32755213C>T GRCh37
NC_000012.10:g.32646480C>T NCBI36
NG_008626.2:g.207751C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001370298.3:c.1366C>T MANE Select NP_001357227.2:p.Arg456Cys
ENST00000534526.7:c.1366C>T MANE Select ENSP00000449273.1:p.Arg456Cys
NM_001304480.1:c.1291C>T NP_001291409.1:p.Arg431Cys
NM_001304481.1:c.1210C>T NP_001291410.1:p.Arg404Cys
NM_001304483.1:c.211C>T NP_001291412.1:p.Arg71Cys
NM_001304483.2:c.211C>T NP_001291412.1:p.Arg71Cys
NM_001304484.1:c.-97C>T NP_001291413.1:n.-97C>T
NM_001304484.2:c.-97C>T NP_001291413.1:n.-97C>T
NM_001330373.1:c.676C>T NP_001317302.1:p.Arg226Cys
NM_001330373.2:c.676C>T NP_001317302.1:p.Arg226Cys
NM_001330374.1:c.676C>T NP_001317303.1:p.Arg226Cys
NM_001330374.2:c.676C>T NP_001317303.1:p.Arg226Cys
NM_001370297.1:c.403C>T NP_001357226.1:p.Arg135Cys
NM_001370298.1:c.1447C>T NP_001357227.1:p.Arg483Cys
NM_001384126.1:c.1366C>T NP_001371055.1:p.Arg456Cys
NM_001384127.1:c.955C>T NP_001371056.1:p.Arg319Cys
NM_001384128.1:c.955C>T NP_001371057.1:p.Arg319Cys
NM_001384130.1:c.676C>T NP_001371059.1:p.Arg226Cys
NM_001385118.1:c.955C>T NP_001372047.1:p.Arg319Cys
NM_139241.3:c.955C>T NP_640334.2:p.Arg319Cys
ENST00000395740.5:c.*347C>T ENSP00000379089.1:n.*347C>T
ENST00000427716.6:c.955C>T ENSP00000394487.2:p.Arg319Cys
ENST00000427716.7:c.955C>T ENSP00000394487.2:p.Arg319Cys
ENST00000493087.5:c.*347C>T ENSP00000437109.1:n.*347C>T
ENST00000494977.1:c.544C>T
ENST00000525053.5:c.1291C>T ENSP00000433666.1:p.Arg431Cys
ENST00000525053.6:c.955C>T ENSP00000433666.2:p.Arg319Cys
ENST00000531134.5:c.1210C>T ENSP00000431323.1:p.Arg404Cys
ENST00000531134.6:c.1210C>T ENSP00000431323.1:p.Arg404Cys
ENST00000531134.7:c.1210C>T ENSP00000431323.1:p.Arg404Cys
ENST00000534526.6:c.1366C>T ENSP00000449273.1:p.Arg456Cys
ENST00000546442.5:c.676C>T ENSP00000446695.1:p.Arg226Cys
ENST00000551984.5:c.*324C>T ENSP00000449614.1:n.*324C>T
ENST00000583694.2:c.955C>T ENSP00000462623.2:p.Arg319Cys
ENST00000682739.1:c.676C>T ENSP00000507616.1:p.Arg226Cys
ENST00000683182.1:c.-95C>T ENSP00000507831.1:n.-95C>T
ENST00000683515.1:n.462C>T
XM_005253304.3:c.1447C>T XP_005253361.1:p.Arg483Cys
XM_005253304.4:c.1447C>T XP_005253361.1:p.Arg483Cys
XM_005253307.2:c.676C>T XP_005253364.1:p.Arg226Cys
XM_005253308.3:c.676C>T XP_005253365.1:p.Arg226Cys
XM_005253308.5:c.676C>T XP_005253365.1:p.Arg226Cys
XM_005253309.1:c.676C>T XP_005253366.1:p.Arg226Cys
XM_005253310.3:c.211C>T XP_005253367.1:p.Arg71Cys
XM_005253310.4:c.211C>T XP_005253367.1:p.Arg71Cys
XM_011520554.1:c.1249C>T XP_011518856.1:p.Arg417Cys
XM_011520555.1:c.955C>T XP_011518857.1:p.Arg319Cys
XM_011520556.1:c.955C>T XP_011518858.1:p.Arg319Cys
XM_011520557.1:c.403C>T XP_011518859.1:p.Arg135Cys
XM_011520558.1:c.358C>T XP_011518860.1:p.Arg120Cys
XM_011520558.2:c.358C>T XP_011518860.1:p.Arg120Cys
XM_011520559.1:c.190C>T XP_011518861.1:p.Arg64Cys
XM_011520559.3:c.190C>T XP_011518861.1:p.Arg64Cys
XM_017018803.1:c.1447C>T XP_016874292.1:p.Arg483Cys
XM_017018805.1:c.403C>T XP_016874294.1:p.Arg135Cys
XM_024448837.1:c.676C>T XP_024304605.1:p.Arg226Cys
XM_024448838.1:c.676C>T XP_024304606.1:p.Arg226Cys
XM_024448839.1:c.676C>T XP_024304607.1:p.Arg226Cys
XM_024448840.1:c.64C>T XP_024304608.1:p.Arg22Cys
XR_001748576.1:n.1637C>T