Canonical Allele Identifier: CA384357126

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32751476C>A (hg19) ; chr12:g.32598542C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598542C>A , CM000674.2:g.32598542C>A	GRCh38
NC_000012.11:g.32751476C>A , CM000674.1:g.32751476C>A	GRCh37
NC_000012.10:g.32642743C>A	NCBI36
NG_008626.2:g.204014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.646C>A	ENSP00000394487.2:p.Leu216Ile
ENST00000531134.7:c.901C>A	ENSP00000431323.1:p.Leu301Ile
ENST00000583694.2:c.646C>A	ENSP00000462623.2:p.Leu216Ile
ENST00000682739.1:c.367C>A	ENSP00000507616.1:p.Leu123Ile
ENST00000683182.1:c.-404C>A	ENSP00000507831.1:n.-404C>A
ENST00000683515.1:n.153C>A
ENST00000525053.6:c.646C>A	ENSP00000433666.2:p.Leu216Ile
ENST00000531134.6:c.901C>A	ENSP00000431323.1:p.Leu301Ile
ENST00000534526.7:c.1057C>A MANE Select	ENSP00000449273.1:p.Leu353Ile
ENST00000395740.5:c.646C>A	ENSP00000379089.1:p.Leu216Ile
ENST00000427716.6:c.646C>A	ENSP00000394487.2:p.Leu216Ile
ENST00000493087.5:c.646C>A	ENSP00000437109.1:p.Leu216Ile
ENST00000494977.1:c.135C>A
ENST00000525053.5:c.982C>A	ENSP00000433666.1:p.Leu328Ile
ENST00000531134.5:c.901C>A	ENSP00000431323.1:p.Leu301Ile
ENST00000534526.6:c.1057C>A	ENSP00000449273.1:p.Leu353Ile
ENST00000546442.5:c.367C>A	ENSP00000446695.1:p.Leu123Ile
ENST00000551984.5:c.*15C>A	ENSP00000449614.1:n.*15C>A
NM_001304480.1:c.982C>A	NP_001291409.1:p.Leu328Ile
NM_001304481.1:c.901C>A	NP_001291410.1:p.Leu301Ile
NM_001304483.1:c.-199C>A	NP_001291412.1:n.-199C>A
NM_001304484.1:c.-506C>A	NP_001291413.1:n.-506C>A
NM_139241.3:c.646C>A	NP_640334.2:p.Leu216Ile
XM_005253304.3:c.1138C>A	XP_005253361.1:p.Leu380Ile
XM_005253307.2:c.367C>A	XP_005253364.1:p.Leu123Ile
XM_005253308.3:c.367C>A	XP_005253365.1:p.Leu123Ile
XM_005253309.1:c.367C>A	XP_005253366.1:p.Leu123Ile
XM_011520554.1:c.940C>A	XP_011518856.1:p.Leu314Ile
XM_011520555.1:c.646C>A	XP_011518857.1:p.Leu216Ile
XM_011520556.1:c.646C>A	XP_011518858.1:p.Leu216Ile
XM_011520557.1:c.94C>A	XP_011518859.1:p.Leu32Ile
XM_011520558.1:c.49C>A	XP_011518860.1:p.Leu17Ile
NM_001330373.1:c.367C>A	NP_001317302.1:p.Leu123Ile
NM_001330374.1:c.367C>A	NP_001317303.1:p.Leu123Ile
XM_005253304.4:c.1138C>A	XP_005253361.1:p.Leu380Ile
XM_005253308.5:c.367C>A	XP_005253365.1:p.Leu123Ile
XM_005253310.4:c.-199C>A	XP_005253367.1:n.-199C>A
XM_011520558.2:c.49C>A	XP_011518860.1:p.Leu17Ile
XM_017018803.1:c.1138C>A	XP_016874292.1:p.Leu380Ile
XM_017018805.1:c.94C>A	XP_016874294.1:p.Leu32Ile
XM_024448837.1:c.367C>A	XP_024304605.1:p.Leu123Ile
XM_024448838.1:c.367C>A	XP_024304606.1:p.Leu123Ile
XM_024448839.1:c.367C>A	XP_024304607.1:p.Leu123Ile
XM_024448840.1:c.-157C>A	XP_024304608.1:n.-157C>A
XR_001748576.1:n.1328C>A
NM_001370297.1:c.94C>A	NP_001357226.1:p.Leu32Ile
NM_001370298.1:c.1138C>A	NP_001357227.1:p.Leu380Ile
NM_001304483.2:c.-199C>A	NP_001291412.1:n.-199C>A
NM_001304484.2:c.-506C>A	NP_001291413.1:n.-506C>A
NM_001330373.2:c.367C>A	NP_001317302.1:p.Leu123Ile
NM_001330374.2:c.367C>A	NP_001317303.1:p.Leu123Ile
NM_001370298.3:c.1057C>A MANE Select	NP_001357227.2:p.Leu353Ile
NM_001384126.1:c.1057C>A	NP_001371055.1:p.Leu353Ile
NM_001384127.1:c.646C>A	NP_001371056.1:p.Leu216Ile
NM_001384128.1:c.646C>A	NP_001371057.1:p.Leu216Ile
NM_001384130.1:c.367C>A	NP_001371059.1:p.Leu123Ile
NM_001385118.1:c.646C>A	NP_001372047.1:p.Leu216Ile