Canonical Allele Identifier: CA384361023

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32764109G>C (hg19) ; chr12:g.32611175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32611175G>C , CM000674.2:g.32611175G>C	GRCh38
NC_000012.11:g.32764109G>C , CM000674.1:g.32764109G>C	GRCh37
NC_000012.10:g.32655376G>C	NCBI36
NG_008626.2:g.216647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.1230G>C	ENSP00000394487.2:p.Leu410Phe
ENST00000531134.7:c.1485G>C	ENSP00000431323.1:p.Leu495Phe
ENST00000583694.2:c.1230G>C	ENSP00000462623.2:p.Leu410Phe
ENST00000682739.1:c.951G>C	ENSP00000507616.1:p.Leu317Phe
ENST00000683182.1:c.42G>C	ENSP00000507831.1:p.Leu14Phe
ENST00000683515.1:n.737G>C
ENST00000525053.6:c.1230G>C	ENSP00000433666.2:p.Leu410Phe
ENST00000531134.6:c.1485G>C	ENSP00000431323.1:p.Leu495Phe
ENST00000534526.7:c.1641G>C MANE Select	ENSP00000449273.1:p.Leu547Phe
ENST00000395740.5:c.*622G>C	ENSP00000379089.1:n.*622G>C
ENST00000427716.6:c.1230G>C	ENSP00000394487.2:p.Leu410Phe
ENST00000493087.5:c.*641G>C	ENSP00000437109.1:n.*641G>C
ENST00000494977.1:c.819G>C
ENST00000525053.5:c.1566G>C	ENSP00000433666.1:p.Leu522Phe
ENST00000531134.5:c.1485G>C	ENSP00000431323.1:p.Leu495Phe
ENST00000534526.6:c.1641G>C	ENSP00000449273.1:p.Leu547Phe
ENST00000546442.5:c.951G>C	ENSP00000446695.1:p.Leu317Phe
ENST00000551984.5:c.*599G>C	ENSP00000449614.1:n.*599G>C
NM_001304480.1:c.1566G>C	NP_001291409.1:p.Leu522Phe
NM_001304481.1:c.1485G>C	NP_001291410.1:p.Leu495Phe
NM_001304483.1:c.486G>C	NP_001291412.1:p.Leu162Phe
NM_001304484.1:c.198G>C	NP_001291413.1:p.Leu66Phe
NM_139241.3:c.1230G>C	NP_640334.2:p.Leu410Phe
XM_005253304.3:c.1722G>C	XP_005253361.1:p.Leu574Phe
XM_005253307.2:c.951G>C	XP_005253364.1:p.Leu317Phe
XM_005253308.3:c.951G>C	XP_005253365.1:p.Leu317Phe
XM_005253309.1:c.951G>C	XP_005253366.1:p.Leu317Phe
XM_005253310.3:c.486G>C	XP_005253367.1:p.Leu162Phe
XM_011520554.1:c.1524G>C	XP_011518856.1:p.Leu508Phe
XM_011520555.1:c.1230G>C	XP_011518857.1:p.Leu410Phe
XM_011520556.1:c.1230G>C	XP_011518858.1:p.Leu410Phe
XM_011520557.1:c.678G>C	XP_011518859.1:p.Leu226Phe
XM_011520558.1:c.633G>C	XP_011518860.1:p.Leu211Phe
XM_011520559.1:c.465G>C	XP_011518861.1:p.Leu155Phe
NM_001330373.1:c.951G>C	NP_001317302.1:p.Leu317Phe
NM_001330374.1:c.951G>C	NP_001317303.1:p.Leu317Phe
XM_005253304.4:c.1722G>C	XP_005253361.1:p.Leu574Phe
XM_005253308.5:c.951G>C	XP_005253365.1:p.Leu317Phe
XM_005253310.4:c.486G>C	XP_005253367.1:p.Leu162Phe
XM_011520558.2:c.633G>C	XP_011518860.1:p.Leu211Phe
XM_011520559.3:c.465G>C	XP_011518861.1:p.Leu155Phe
XM_017018803.1:c.1722G>C	XP_016874292.1:p.Leu574Phe
XM_017018805.1:c.678G>C	XP_016874294.1:p.Leu226Phe
XM_024448837.1:c.951G>C	XP_024304605.1:p.Leu317Phe
XM_024448838.1:c.951G>C	XP_024304606.1:p.Leu317Phe
XM_024448839.1:c.951G>C	XP_024304607.1:p.Leu317Phe
XM_024448840.1:c.339G>C	XP_024304608.1:p.Leu113Phe
XR_001748576.1:n.1931G>C
NM_001370297.1:c.678G>C	NP_001357226.1:p.Leu226Phe
NM_001370298.1:c.1722G>C	NP_001357227.1:p.Leu574Phe
NM_001304483.2:c.486G>C	NP_001291412.1:p.Leu162Phe
NM_001304484.2:c.198G>C	NP_001291413.1:p.Leu66Phe
NM_001330373.2:c.951G>C	NP_001317302.1:p.Leu317Phe
NM_001330374.2:c.951G>C	NP_001317303.1:p.Leu317Phe
NM_001370298.3:c.1641G>C MANE Select	NP_001357227.2:p.Leu547Phe
NM_001384126.1:c.1641G>C	NP_001371055.1:p.Leu547Phe
NM_001384127.1:c.1230G>C	NP_001371056.1:p.Leu410Phe
NM_001384128.1:c.1230G>C	NP_001371057.1:p.Leu410Phe
NM_001384130.1:c.951G>C	NP_001371059.1:p.Leu317Phe
NM_001385118.1:c.1230G>C	NP_001372047.1:p.Leu410Phe