Canonical Allele Identifier: CA251667
Gene: FGD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1011
dbSNP Id: rs118203972
COSMIC: COSM78947

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32598566C>T , CM000674.2:g.32598566C>T GRCh38
NC_000012.11:g.32751500C>T , CM000674.1:g.32751500C>T GRCh37
NC_000012.10:g.32642767C>T NCBI36
NG_008626.2:g.204038C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000427716.7:c.670C>T ENSP00000394487.2:p.Arg224Ter
ENST00000531134.7:c.925C>T ENSP00000431323.1:p.Arg309Ter
ENST00000583694.2:c.670C>T ENSP00000462623.2:p.Arg224Ter
ENST00000682739.1:c.391C>T ENSP00000507616.1:p.Arg131Ter
ENST00000683182.1:c.-380C>T ENSP00000507831.1:n.-380C>T
ENST00000683515.1:n.177C>T
ENST00000525053.6:c.670C>T ENSP00000433666.2:p.Arg224Ter
ENST00000531134.6:c.925C>T ENSP00000431323.1:p.Arg309Ter
ENST00000534526.7:c.1081C>T MANE Select ENSP00000449273.1:p.Arg361Ter
ENST00000395740.5:c.670C>T ENSP00000379089.1:p.Arg224Ter
ENST00000427716.6:c.670C>T ENSP00000394487.2:p.Arg224Ter
ENST00000493087.5:c.670C>T ENSP00000437109.1:p.Arg224Ter
ENST00000494977.1:c.159C>T
ENST00000525053.5:c.1006C>T ENSP00000433666.1:p.Arg336Ter
ENST00000531134.5:c.925C>T ENSP00000431323.1:p.Arg309Ter
ENST00000534526.6:c.1081C>T ENSP00000449273.1:p.Arg361Ter
ENST00000546442.5:c.391C>T ENSP00000446695.1:p.Arg131Ter
ENST00000551984.5:c.*39C>T ENSP00000449614.1:n.*39C>T
NM_001304480.1:c.1006C>T NP_001291409.1:p.Arg336Ter
NM_001304481.1:c.925C>T NP_001291410.1:p.Arg309Ter
NM_001304483.1:c.-175C>T NP_001291412.1:n.-175C>T
NM_001304484.1:c.-482C>T NP_001291413.1:n.-482C>T
NM_139241.3:c.670C>T NP_640334.2:p.Arg224Ter
XM_005253304.3:c.1162C>T XP_005253361.1:p.Arg388Ter
XM_005253307.2:c.391C>T XP_005253364.1:p.Arg131Ter
XM_005253308.3:c.391C>T XP_005253365.1:p.Arg131Ter
XM_005253309.1:c.391C>T XP_005253366.1:p.Arg131Ter
XM_011520554.1:c.964C>T XP_011518856.1:p.Arg322Ter
XM_011520555.1:c.670C>T XP_011518857.1:p.Arg224Ter
XM_011520556.1:c.670C>T XP_011518858.1:p.Arg224Ter
XM_011520557.1:c.118C>T XP_011518859.1:p.Arg40Ter
XM_011520558.1:c.73C>T XP_011518860.1:p.Arg25Ter
NM_001330373.1:c.391C>T NP_001317302.1:p.Arg131Ter
NM_001330374.1:c.391C>T NP_001317303.1:p.Arg131Ter
XM_005253304.4:c.1162C>T XP_005253361.1:p.Arg388Ter
XM_005253308.5:c.391C>T XP_005253365.1:p.Arg131Ter
XM_005253310.4:c.-175C>T XP_005253367.1:n.-175C>T
XM_011520558.2:c.73C>T XP_011518860.1:p.Arg25Ter
XM_017018803.1:c.1162C>T XP_016874292.1:p.Arg388Ter
XM_017018805.1:c.118C>T XP_016874294.1:p.Arg40Ter
XM_024448837.1:c.391C>T XP_024304605.1:p.Arg131Ter
XM_024448838.1:c.391C>T XP_024304606.1:p.Arg131Ter
XM_024448839.1:c.391C>T XP_024304607.1:p.Arg131Ter
XM_024448840.1:c.-133C>T XP_024304608.1:n.-133C>T
XR_001748576.1:n.1352C>T
NM_001370297.1:c.118C>T NP_001357226.1:p.Arg40Ter
NM_001370298.1:c.1162C>T NP_001357227.1:p.Arg388Ter
NM_001304483.2:c.-175C>T NP_001291412.1:n.-175C>T
NM_001304484.2:c.-482C>T NP_001291413.1:n.-482C>T
NM_001330373.2:c.391C>T NP_001317302.1:p.Arg131Ter
NM_001330374.2:c.391C>T NP_001317303.1:p.Arg131Ter
NM_001370298.3:c.1081C>T MANE Select NP_001357227.2:p.Arg361Ter
NM_001384126.1:c.1081C>T NP_001371055.1:p.Arg361Ter
NM_001384127.1:c.670C>T NP_001371056.1:p.Arg224Ter
NM_001384128.1:c.670C>T NP_001371057.1:p.Arg224Ter
NM_001384130.1:c.391C>T NP_001371059.1:p.Arg131Ter
NM_001385118.1:c.670C>T NP_001372047.1:p.Arg224Ter