Canonical Allele Identifier: CA384361156

Gene: FGD4

Linked Data

• ClinVar Variation Id: 3026589
• ClinVar RCV Id: RCV003886982
• MyVariant Identifiers: chr12:g.32764167C>T (hg19) ; chr12:g.32611233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32611233C>T , CM000674.2:g.32611233C>T	GRCh38
NC_000012.11:g.32764167C>T , CM000674.1:g.32764167C>T	GRCh37
NC_000012.10:g.32655434C>T	NCBI36
NG_008626.2:g.216705C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.1288C>T	ENSP00000394487.2:p.Leu430Phe
ENST00000531134.7:c.1543C>T	ENSP00000431323.1:p.Leu515Phe
ENST00000583694.2:c.1288C>T	ENSP00000462623.2:p.Leu430Phe
ENST00000682739.1:c.1009C>T	ENSP00000507616.1:p.Leu337Phe
ENST00000683182.1:c.100C>T	ENSP00000507831.1:p.Leu34Phe
ENST00000683515.1:n.795C>T
ENST00000525053.6:c.1288C>T	ENSP00000433666.2:p.Leu430Phe
ENST00000531134.6:c.1543C>T	ENSP00000431323.1:p.Leu515Phe
ENST00000534526.7:c.1699C>T MANE Select	ENSP00000449273.1:p.Leu567Phe
ENST00000395740.5:c.*680C>T	ENSP00000379089.1:n.*680C>T
ENST00000427716.6:c.1288C>T	ENSP00000394487.2:p.Leu430Phe
ENST00000493087.5:c.*699C>T	ENSP00000437109.1:n.*699C>T
ENST00000494977.1:c.877C>T
ENST00000525053.5:c.1624C>T	ENSP00000433666.1:p.Leu542Phe
ENST00000531134.5:c.1543C>T	ENSP00000431323.1:p.Leu515Phe
ENST00000534526.6:c.1699C>T	ENSP00000449273.1:p.Leu567Phe
ENST00000546442.5:c.1009C>T	ENSP00000446695.1:p.Leu337Phe
ENST00000551984.5:c.*657C>T	ENSP00000449614.1:n.*657C>T
NM_001304480.1:c.1624C>T	NP_001291409.1:p.Leu542Phe
NM_001304481.1:c.1543C>T	NP_001291410.1:p.Leu515Phe
NM_001304483.1:c.544C>T	NP_001291412.1:p.Leu182Phe
NM_001304484.1:c.256C>T	NP_001291413.1:p.Leu86Phe
NM_139241.3:c.1288C>T	NP_640334.2:p.Leu430Phe
XM_005253304.3:c.1780C>T	XP_005253361.1:p.Leu594Phe
XM_005253307.2:c.1009C>T	XP_005253364.1:p.Leu337Phe
XM_005253308.3:c.1009C>T	XP_005253365.1:p.Leu337Phe
XM_005253309.1:c.1009C>T	XP_005253366.1:p.Leu337Phe
XM_005253310.3:c.544C>T	XP_005253367.1:p.Leu182Phe
XM_011520554.1:c.1582C>T	XP_011518856.1:p.Leu528Phe
XM_011520555.1:c.1288C>T	XP_011518857.1:p.Leu430Phe
XM_011520556.1:c.1288C>T	XP_011518858.1:p.Leu430Phe
XM_011520557.1:c.736C>T	XP_011518859.1:p.Leu246Phe
XM_011520558.1:c.691C>T	XP_011518860.1:p.Leu231Phe
XM_011520559.1:c.523C>T	XP_011518861.1:p.Leu175Phe
NM_001330373.1:c.1009C>T	NP_001317302.1:p.Leu337Phe
NM_001330374.1:c.1009C>T	NP_001317303.1:p.Leu337Phe
XM_005253304.4:c.1780C>T	XP_005253361.1:p.Leu594Phe
XM_005253308.5:c.1009C>T	XP_005253365.1:p.Leu337Phe
XM_005253310.4:c.544C>T	XP_005253367.1:p.Leu182Phe
XM_011520558.2:c.691C>T	XP_011518860.1:p.Leu231Phe
XM_011520559.3:c.523C>T	XP_011518861.1:p.Leu175Phe
XM_017018803.1:c.1780C>T	XP_016874292.1:p.Leu594Phe
XM_017018805.1:c.736C>T	XP_016874294.1:p.Leu246Phe
XM_024448837.1:c.1009C>T	XP_024304605.1:p.Leu337Phe
XM_024448838.1:c.1009C>T	XP_024304606.1:p.Leu337Phe
XM_024448839.1:c.1009C>T	XP_024304607.1:p.Leu337Phe
XM_024448840.1:c.397C>T	XP_024304608.1:p.Leu133Phe
XR_001748576.1:n.1989C>T
NM_001370297.1:c.736C>T	NP_001357226.1:p.Leu246Phe
NM_001370298.1:c.1780C>T	NP_001357227.1:p.Leu594Phe
NM_001304483.2:c.544C>T	NP_001291412.1:p.Leu182Phe
NM_001304484.2:c.256C>T	NP_001291413.1:p.Leu86Phe
NM_001330373.2:c.1009C>T	NP_001317302.1:p.Leu337Phe
NM_001330374.2:c.1009C>T	NP_001317303.1:p.Leu337Phe
NM_001370298.3:c.1699C>T MANE Select	NP_001357227.2:p.Leu567Phe
NM_001384126.1:c.1699C>T	NP_001371055.1:p.Leu567Phe
NM_001384127.1:c.1288C>T	NP_001371056.1:p.Leu430Phe
NM_001384128.1:c.1288C>T	NP_001371057.1:p.Leu430Phe
NM_001384130.1:c.1009C>T	NP_001371059.1:p.Leu337Phe
NM_001385118.1:c.1288C>T	NP_001372047.1:p.Leu430Phe