Canonical Allele Identifier: CA251669
Gene: FGD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014
ClinVar RCV Id: RCV000001069
dbSNP Id: rs118203973

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32625774G>T , CM000674.2:g.32625774G>T GRCh38
NC_000012.11:g.32778708G>T , CM000674.1:g.32778708G>T GRCh37
NC_000012.10:g.32669975G>T NCBI36
NG_008626.2:g.231246G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000427716.7:c.1756G>T ENSP00000394487.2:p.Gly586Ter
ENST00000531134.7:c.2011G>T ENSP00000431323.1:p.Gly671Ter
ENST00000583694.2:c.1756G>T ENSP00000462623.2:p.Gly586Ter
ENST00000682739.1:c.1477G>T ENSP00000507616.1:p.Gly493Ter
ENST00000683182.1:c.568G>T ENSP00000507831.1:p.Gly190Ter
ENST00000683515.1:n.1263G>T
ENST00000684033.1:n.554G>T
ENST00000525053.6:c.1756G>T ENSP00000433666.2:p.Gly586Ter
ENST00000531134.6:c.2011G>T ENSP00000431323.1:p.Gly671Ter
ENST00000534526.7:c.2167G>T MANE Select ENSP00000449273.1:p.Gly723Ter
ENST00000395740.5:c.*1148G>T ENSP00000379089.1:n.*1148G>T
ENST00000427716.6:c.1756G>T ENSP00000394487.2:p.Gly586Ter
ENST00000493087.5:c.*1167G>T ENSP00000437109.1:n.*1167G>T
ENST00000494977.1:c.1438G>T
ENST00000525053.5:c.2092G>T ENSP00000433666.1:p.Gly698Ter
ENST00000531134.5:c.2011G>T ENSP00000431323.1:p.Gly671Ter
ENST00000534526.6:c.2167G>T ENSP00000449273.1:p.Gly723Ter
ENST00000546442.5:c.1477G>T ENSP00000446695.1:p.Gly493Ter
ENST00000551984.5:c.*1125G>T ENSP00000449614.1:n.*1125G>T
NM_001304480.1:c.2092G>T NP_001291409.1:p.Gly698Ter
NM_001304481.1:c.2011G>T NP_001291410.1:p.Gly671Ter
NM_001304483.1:c.1012G>T NP_001291412.1:p.Gly338Ter
NM_001304484.1:c.724G>T NP_001291413.1:p.Gly242Ter
NM_139241.3:c.1756G>T NP_640334.2:p.Gly586Ter
XM_005253304.3:c.2248G>T XP_005253361.1:p.Gly750Ter
XM_005253307.2:c.1477G>T XP_005253364.1:p.Gly493Ter
XM_005253308.3:c.1477G>T XP_005253365.1:p.Gly493Ter
XM_005253309.1:c.1477G>T XP_005253366.1:p.Gly493Ter
XM_005253310.3:c.1012G>T XP_005253367.1:p.Gly338Ter
XM_011520554.1:c.2050G>T XP_011518856.1:p.Gly684Ter
XM_011520555.1:c.1756G>T XP_011518857.1:p.Gly586Ter
XM_011520556.1:c.1756G>T XP_011518858.1:p.Gly586Ter
XM_011520557.1:c.1204G>T XP_011518859.1:p.Gly402Ter
XM_011520558.1:c.1159G>T XP_011518860.1:p.Gly387Ter
XM_011520559.1:c.991G>T XP_011518861.1:p.Gly331Ter
NM_001330373.1:c.1477G>T NP_001317302.1:p.Gly493Ter
NM_001330374.1:c.1477G>T NP_001317303.1:p.Gly493Ter
XM_005253304.4:c.2248G>T XP_005253361.1:p.Gly750Ter
XM_005253308.5:c.1477G>T XP_005253365.1:p.Gly493Ter
XM_005253310.4:c.1012G>T XP_005253367.1:p.Gly338Ter
XM_011520558.2:c.1159G>T XP_011518860.1:p.Gly387Ter
XM_011520559.3:c.991G>T XP_011518861.1:p.Gly331Ter
XM_017018803.1:c.2248G>T XP_016874292.1:p.Gly750Ter
XM_017018805.1:c.1204G>T XP_016874294.1:p.Gly402Ter
XM_024448837.1:c.1477G>T XP_024304605.1:p.Gly493Ter
XM_024448838.1:c.1477G>T XP_024304606.1:p.Gly493Ter
XM_024448839.1:c.1477G>T XP_024304607.1:p.Gly493Ter
XM_024448840.1:c.865G>T XP_024304608.1:p.Gly289Ter
NM_001370297.1:c.1204G>T NP_001357226.1:p.Gly402Ter
NM_001370298.1:c.2248G>T NP_001357227.1:p.Gly750Ter
NM_001304483.2:c.1012G>T NP_001291412.1:p.Gly338Ter
NM_001304484.2:c.724G>T NP_001291413.1:p.Gly242Ter
NM_001330373.2:c.1477G>T NP_001317302.1:p.Gly493Ter
NM_001330374.2:c.1477G>T NP_001317303.1:p.Gly493Ter
NM_001370298.3:c.2167G>T MANE Select NP_001357227.2:p.Gly723Ter
NM_001384126.1:c.2167G>T NP_001371055.1:p.Gly723Ter
NM_001384127.1:c.1756G>T NP_001371056.1:p.Gly586Ter
NM_001384128.1:c.1756G>T NP_001371057.1:p.Gly586Ter
NM_001384130.1:c.1477G>T NP_001371059.1:p.Gly493Ter
NM_001385118.1:c.1756G>T NP_001372047.1:p.Gly586Ter