Canonical Allele Identifier: CA384364680

Gene: FGD4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32619817T>G , CM000674.2:g.32619817T>G	GRCh38
NC_000012.11:g.32772751T>G , CM000674.1:g.32772751T>G	GRCh37
NC_000012.10:g.32664018T>G	NCBI36
NG_008626.2:g.225289T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001370298.3:c.1869T>G MANE Select	NP_001357227.2:p.Tyr623Ter
ENST00000534526.7:c.1869T>G MANE Select	ENSP00000449273.1:p.Tyr623Ter
NM_001304480.1:c.1794T>G	NP_001291409.1:p.Tyr598Ter
NM_001304481.1:c.1713T>G	NP_001291410.1:p.Tyr571Ter
NM_001304483.1:c.714T>G	NP_001291412.1:p.Tyr238Ter
NM_001304483.2:c.714T>G	NP_001291412.1:p.Tyr238Ter
NM_001304484.1:c.426T>G	NP_001291413.1:p.Tyr142Ter
NM_001304484.2:c.426T>G	NP_001291413.1:p.Tyr142Ter
NM_001330373.1:c.1179T>G	NP_001317302.1:p.Tyr393Ter
NM_001330373.2:c.1179T>G	NP_001317302.1:p.Tyr393Ter
NM_001330374.1:c.1179T>G	NP_001317303.1:p.Tyr393Ter
NM_001330374.2:c.1179T>G	NP_001317303.1:p.Tyr393Ter
NM_001370297.1:c.906T>G	NP_001357226.1:p.Tyr302Ter
NM_001370298.1:c.1950T>G	NP_001357227.1:p.Tyr650Ter
NM_001384126.1:c.1869T>G	NP_001371055.1:p.Tyr623Ter
NM_001384127.1:c.1458T>G	NP_001371056.1:p.Tyr486Ter
NM_001384128.1:c.1458T>G	NP_001371057.1:p.Tyr486Ter
NM_001384130.1:c.1179T>G	NP_001371059.1:p.Tyr393Ter
NM_001385118.1:c.1458T>G	NP_001372047.1:p.Tyr486Ter
NM_139241.3:c.1458T>G	NP_640334.2:p.Tyr486Ter
ENST00000395740.5:c.*850T>G	ENSP00000379089.1:n.*850T>G
ENST00000427716.6:c.1458T>G	ENSP00000394487.2:p.Tyr486Ter
ENST00000427716.7:c.1458T>G	ENSP00000394487.2:p.Tyr486Ter
ENST00000493087.5:c.*869T>G	ENSP00000437109.1:n.*869T>G
ENST00000494977.1:c.1047T>G
ENST00000525053.5:c.1794T>G	ENSP00000433666.1:p.Tyr598Ter
ENST00000525053.6:c.1458T>G	ENSP00000433666.2:p.Tyr486Ter
ENST00000531134.5:c.1713T>G	ENSP00000431323.1:p.Tyr571Ter
ENST00000531134.6:c.1713T>G	ENSP00000431323.1:p.Tyr571Ter
ENST00000531134.7:c.1713T>G	ENSP00000431323.1:p.Tyr571Ter
ENST00000534526.6:c.1869T>G	ENSP00000449273.1:p.Tyr623Ter
ENST00000546442.5:c.1179T>G	ENSP00000446695.1:p.Tyr393Ter
ENST00000551984.5:c.*827T>G	ENSP00000449614.1:n.*827T>G
ENST00000583694.2:c.1458T>G	ENSP00000462623.2:p.Tyr486Ter
ENST00000682739.1:c.1179T>G	ENSP00000507616.1:p.Tyr393Ter
ENST00000683182.1:c.270T>G	ENSP00000507831.1:p.Tyr90Ter
ENST00000683515.1:n.965T>G
ENST00000684033.1:n.256T>G
XM_005253304.3:c.1950T>G	XP_005253361.1:p.Tyr650Ter
XM_005253304.4:c.1950T>G	XP_005253361.1:p.Tyr650Ter
XM_005253307.2:c.1179T>G	XP_005253364.1:p.Tyr393Ter
XM_005253308.3:c.1179T>G	XP_005253365.1:p.Tyr393Ter
XM_005253308.5:c.1179T>G	XP_005253365.1:p.Tyr393Ter
XM_005253309.1:c.1179T>G	XP_005253366.1:p.Tyr393Ter
XM_005253310.3:c.714T>G	XP_005253367.1:p.Tyr238Ter
XM_005253310.4:c.714T>G	XP_005253367.1:p.Tyr238Ter
XM_011520554.1:c.1752T>G	XP_011518856.1:p.Tyr584Ter
XM_011520555.1:c.1458T>G	XP_011518857.1:p.Tyr486Ter
XM_011520556.1:c.1458T>G	XP_011518858.1:p.Tyr486Ter
XM_011520557.1:c.906T>G	XP_011518859.1:p.Tyr302Ter
XM_011520558.1:c.861T>G	XP_011518860.1:p.Tyr287Ter
XM_011520558.2:c.861T>G	XP_011518860.1:p.Tyr287Ter
XM_011520559.1:c.693T>G	XP_011518861.1:p.Tyr231Ter
XM_011520559.3:c.693T>G	XP_011518861.1:p.Tyr231Ter
XM_017018803.1:c.1950T>G	XP_016874292.1:p.Tyr650Ter
XM_017018805.1:c.906T>G	XP_016874294.1:p.Tyr302Ter
XM_024448837.1:c.1179T>G	XP_024304605.1:p.Tyr393Ter
XM_024448838.1:c.1179T>G	XP_024304606.1:p.Tyr393Ter
XM_024448839.1:c.1179T>G	XP_024304607.1:p.Tyr393Ter
XM_024448840.1:c.567T>G	XP_024304608.1:p.Tyr189Ter