Canonical Allele Identifier: CA384357130

Gene: FGD4

Linked Data

• dbSNP Id: rs771088769
• MyVariant Identifiers: chr12:g.32751477T>G (hg19) ; chr12:g.32598543T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598543T>G , CM000674.2:g.32598543T>G	GRCh38
NC_000012.11:g.32751477T>G , CM000674.1:g.32751477T>G	GRCh37
NC_000012.10:g.32642744T>G	NCBI36
NG_008626.2:g.204015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.647T>G	ENSP00000394487.2:p.Leu216Arg
ENST00000531134.7:c.902T>G	ENSP00000431323.1:p.Leu301Arg
ENST00000583694.2:c.647T>G	ENSP00000462623.2:p.Leu216Arg
ENST00000682739.1:c.368T>G	ENSP00000507616.1:p.Leu123Arg
ENST00000683182.1:c.-403T>G	ENSP00000507831.1:n.-403T>G
ENST00000683515.1:n.154T>G
ENST00000525053.6:c.647T>G	ENSP00000433666.2:p.Leu216Arg
ENST00000531134.6:c.902T>G	ENSP00000431323.1:p.Leu301Arg
ENST00000534526.7:c.1058T>G MANE Select	ENSP00000449273.1:p.Leu353Arg
ENST00000395740.5:c.647T>G	ENSP00000379089.1:p.Leu216Arg
ENST00000427716.6:c.647T>G	ENSP00000394487.2:p.Leu216Arg
ENST00000493087.5:c.647T>G	ENSP00000437109.1:p.Leu216Arg
ENST00000494977.1:c.136T>G
ENST00000525053.5:c.983T>G	ENSP00000433666.1:p.Leu328Arg
ENST00000531134.5:c.902T>G	ENSP00000431323.1:p.Leu301Arg
ENST00000534526.6:c.1058T>G	ENSP00000449273.1:p.Leu353Arg
ENST00000546442.5:c.368T>G	ENSP00000446695.1:p.Leu123Arg
ENST00000551984.5:c.*16T>G	ENSP00000449614.1:n.*16T>G
NM_001304480.1:c.983T>G	NP_001291409.1:p.Leu328Arg
NM_001304481.1:c.902T>G	NP_001291410.1:p.Leu301Arg
NM_001304483.1:c.-198T>G	NP_001291412.1:n.-198T>G
NM_001304484.1:c.-505T>G	NP_001291413.1:n.-505T>G
NM_139241.3:c.647T>G	NP_640334.2:p.Leu216Arg
XM_005253304.3:c.1139T>G	XP_005253361.1:p.Leu380Arg
XM_005253307.2:c.368T>G	XP_005253364.1:p.Leu123Arg
XM_005253308.3:c.368T>G	XP_005253365.1:p.Leu123Arg
XM_005253309.1:c.368T>G	XP_005253366.1:p.Leu123Arg
XM_011520554.1:c.941T>G	XP_011518856.1:p.Leu314Arg
XM_011520555.1:c.647T>G	XP_011518857.1:p.Leu216Arg
XM_011520556.1:c.647T>G	XP_011518858.1:p.Leu216Arg
XM_011520557.1:c.95T>G	XP_011518859.1:p.Leu32Arg
XM_011520558.1:c.50T>G	XP_011518860.1:p.Leu17Arg
NM_001330373.1:c.368T>G	NP_001317302.1:p.Leu123Arg
NM_001330374.1:c.368T>G	NP_001317303.1:p.Leu123Arg
XM_005253304.4:c.1139T>G	XP_005253361.1:p.Leu380Arg
XM_005253308.5:c.368T>G	XP_005253365.1:p.Leu123Arg
XM_005253310.4:c.-198T>G	XP_005253367.1:n.-198T>G
XM_011520558.2:c.50T>G	XP_011518860.1:p.Leu17Arg
XM_017018803.1:c.1139T>G	XP_016874292.1:p.Leu380Arg
XM_017018805.1:c.95T>G	XP_016874294.1:p.Leu32Arg
XM_024448837.1:c.368T>G	XP_024304605.1:p.Leu123Arg
XM_024448838.1:c.368T>G	XP_024304606.1:p.Leu123Arg
XM_024448839.1:c.368T>G	XP_024304607.1:p.Leu123Arg
XM_024448840.1:c.-156T>G	XP_024304608.1:n.-156T>G
XR_001748576.1:n.1329T>G
NM_001370297.1:c.95T>G	NP_001357226.1:p.Leu32Arg
NM_001370298.1:c.1139T>G	NP_001357227.1:p.Leu380Arg
NM_001304483.2:c.-198T>G	NP_001291412.1:n.-198T>G
NM_001304484.2:c.-505T>G	NP_001291413.1:n.-505T>G
NM_001330373.2:c.368T>G	NP_001317302.1:p.Leu123Arg
NM_001330374.2:c.368T>G	NP_001317303.1:p.Leu123Arg
NM_001370298.3:c.1058T>G MANE Select	NP_001357227.2:p.Leu353Arg
NM_001384126.1:c.1058T>G	NP_001371055.1:p.Leu353Arg
NM_001384127.1:c.647T>G	NP_001371056.1:p.Leu216Arg
NM_001384128.1:c.647T>G	NP_001371057.1:p.Leu216Arg
NM_001384130.1:c.368T>G	NP_001371059.1:p.Leu123Arg
NM_001385118.1:c.647T>G	NP_001372047.1:p.Leu216Arg