Canonical Allele Identifier: CA384367875

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32778676T>G (hg19) ; chr12:g.32625742T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32625742T>G , CM000674.2:g.32625742T>G	GRCh38
NC_000012.11:g.32778676T>G , CM000674.1:g.32778676T>G	GRCh37
NC_000012.10:g.32669943T>G	NCBI36
NG_008626.2:g.231214T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.1724T>G	ENSP00000394487.2:p.Leu575Arg
ENST00000531134.7:c.1979T>G	ENSP00000431323.1:p.Leu660Arg
ENST00000583694.2:c.1724T>G	ENSP00000462623.2:p.Leu575Arg
ENST00000682739.1:c.1445T>G	ENSP00000507616.1:p.Leu482Arg
ENST00000683182.1:c.536T>G	ENSP00000507831.1:p.Leu179Arg
ENST00000683515.1:n.1231T>G
ENST00000684033.1:n.522T>G
ENST00000525053.6:c.1724T>G	ENSP00000433666.2:p.Leu575Arg
ENST00000531134.6:c.1979T>G	ENSP00000431323.1:p.Leu660Arg
ENST00000534526.7:c.2135T>G MANE Select	ENSP00000449273.1:p.Leu712Arg
ENST00000395740.5:c.*1116T>G	ENSP00000379089.1:n.*1116T>G
ENST00000427716.6:c.1724T>G	ENSP00000394487.2:p.Leu575Arg
ENST00000493087.5:c.*1135T>G	ENSP00000437109.1:n.*1135T>G
ENST00000494977.1:c.1406T>G
ENST00000525053.5:c.2060T>G	ENSP00000433666.1:p.Leu687Arg
ENST00000531134.5:c.1979T>G	ENSP00000431323.1:p.Leu660Arg
ENST00000534526.6:c.2135T>G	ENSP00000449273.1:p.Leu712Arg
ENST00000546442.5:c.1445T>G	ENSP00000446695.1:p.Leu482Arg
ENST00000551984.5:c.*1093T>G	ENSP00000449614.1:n.*1093T>G
NM_001304480.1:c.2060T>G	NP_001291409.1:p.Leu687Arg
NM_001304481.1:c.1979T>G	NP_001291410.1:p.Leu660Arg
NM_001304483.1:c.980T>G	NP_001291412.1:p.Leu327Arg
NM_001304484.1:c.692T>G	NP_001291413.1:p.Leu231Arg
NM_139241.3:c.1724T>G	NP_640334.2:p.Leu575Arg
XM_005253304.3:c.2216T>G	XP_005253361.1:p.Leu739Arg
XM_005253307.2:c.1445T>G	XP_005253364.1:p.Leu482Arg
XM_005253308.3:c.1445T>G	XP_005253365.1:p.Leu482Arg
XM_005253309.1:c.1445T>G	XP_005253366.1:p.Leu482Arg
XM_005253310.3:c.980T>G	XP_005253367.1:p.Leu327Arg
XM_011520554.1:c.2018T>G	XP_011518856.1:p.Leu673Arg
XM_011520555.1:c.1724T>G	XP_011518857.1:p.Leu575Arg
XM_011520556.1:c.1724T>G	XP_011518858.1:p.Leu575Arg
XM_011520557.1:c.1172T>G	XP_011518859.1:p.Leu391Arg
XM_011520558.1:c.1127T>G	XP_011518860.1:p.Leu376Arg
XM_011520559.1:c.959T>G	XP_011518861.1:p.Leu320Arg
NM_001330373.1:c.1445T>G	NP_001317302.1:p.Leu482Arg
NM_001330374.1:c.1445T>G	NP_001317303.1:p.Leu482Arg
XM_005253304.4:c.2216T>G	XP_005253361.1:p.Leu739Arg
XM_005253308.5:c.1445T>G	XP_005253365.1:p.Leu482Arg
XM_005253310.4:c.980T>G	XP_005253367.1:p.Leu327Arg
XM_011520558.2:c.1127T>G	XP_011518860.1:p.Leu376Arg
XM_011520559.3:c.959T>G	XP_011518861.1:p.Leu320Arg
XM_017018803.1:c.2216T>G	XP_016874292.1:p.Leu739Arg
XM_017018805.1:c.1172T>G	XP_016874294.1:p.Leu391Arg
XM_024448837.1:c.1445T>G	XP_024304605.1:p.Leu482Arg
XM_024448838.1:c.1445T>G	XP_024304606.1:p.Leu482Arg
XM_024448839.1:c.1445T>G	XP_024304607.1:p.Leu482Arg
XM_024448840.1:c.833T>G	XP_024304608.1:p.Leu278Arg
NM_001370297.1:c.1172T>G	NP_001357226.1:p.Leu391Arg
NM_001370298.1:c.2216T>G	NP_001357227.1:p.Leu739Arg
NM_001304483.2:c.980T>G	NP_001291412.1:p.Leu327Arg
NM_001304484.2:c.692T>G	NP_001291413.1:p.Leu231Arg
NM_001330373.2:c.1445T>G	NP_001317302.1:p.Leu482Arg
NM_001330374.2:c.1445T>G	NP_001317303.1:p.Leu482Arg
NM_001370298.3:c.2135T>G MANE Select	NP_001357227.2:p.Leu712Arg
NM_001384126.1:c.2135T>G	NP_001371055.1:p.Leu712Arg
NM_001384127.1:c.1724T>G	NP_001371056.1:p.Leu575Arg
NM_001384128.1:c.1724T>G	NP_001371057.1:p.Leu575Arg
NM_001384130.1:c.1445T>G	NP_001371059.1:p.Leu482Arg
NM_001385118.1:c.1724T>G	NP_001372047.1:p.Leu575Arg