Canonical Allele Identifier: CA384361293

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32764216T>C (hg19) ; chr12:g.32611282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32611282T>C , CM000674.2:g.32611282T>C	GRCh38
NC_000012.11:g.32764216T>C , CM000674.1:g.32764216T>C	GRCh37
NC_000012.10:g.32655483T>C	NCBI36
NG_008626.2:g.216754T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.1337T>C	ENSP00000394487.2:p.Leu446Ser
ENST00000531134.7:c.1592T>C	ENSP00000431323.1:p.Leu531Ser
ENST00000583694.2:c.1337T>C	ENSP00000462623.2:p.Leu446Ser
ENST00000682739.1:c.1058T>C	ENSP00000507616.1:p.Leu353Ser
ENST00000683182.1:c.149T>C	ENSP00000507831.1:p.Leu50Ser
ENST00000683515.1:n.844T>C
ENST00000525053.6:c.1337T>C	ENSP00000433666.2:p.Leu446Ser
ENST00000531134.6:c.1592T>C	ENSP00000431323.1:p.Leu531Ser
ENST00000534526.7:c.1748T>C MANE Select	ENSP00000449273.1:p.Leu583Ser
ENST00000395740.5:c.*729T>C	ENSP00000379089.1:n.*729T>C
ENST00000427716.6:c.1337T>C	ENSP00000394487.2:p.Leu446Ser
ENST00000493087.5:c.*748T>C	ENSP00000437109.1:n.*748T>C
ENST00000494977.1:c.926T>C
ENST00000525053.5:c.1673T>C	ENSP00000433666.1:p.Leu558Ser
ENST00000531134.5:c.1592T>C	ENSP00000431323.1:p.Leu531Ser
ENST00000534526.6:c.1748T>C	ENSP00000449273.1:p.Leu583Ser
ENST00000546442.5:c.1058T>C	ENSP00000446695.1:p.Leu353Ser
ENST00000551984.5:c.*706T>C	ENSP00000449614.1:n.*706T>C
NM_001304480.1:c.1673T>C	NP_001291409.1:p.Leu558Ser
NM_001304481.1:c.1592T>C	NP_001291410.1:p.Leu531Ser
NM_001304483.1:c.593T>C	NP_001291412.1:p.Leu198Ser
NM_001304484.1:c.305T>C	NP_001291413.1:p.Leu102Ser
NM_139241.3:c.1337T>C	NP_640334.2:p.Leu446Ser
XM_005253304.3:c.1829T>C	XP_005253361.1:p.Leu610Ser
XM_005253307.2:c.1058T>C	XP_005253364.1:p.Leu353Ser
XM_005253308.3:c.1058T>C	XP_005253365.1:p.Leu353Ser
XM_005253309.1:c.1058T>C	XP_005253366.1:p.Leu353Ser
XM_005253310.3:c.593T>C	XP_005253367.1:p.Leu198Ser
XM_011520554.1:c.1631T>C	XP_011518856.1:p.Leu544Ser
XM_011520555.1:c.1337T>C	XP_011518857.1:p.Leu446Ser
XM_011520556.1:c.1337T>C	XP_011518858.1:p.Leu446Ser
XM_011520557.1:c.785T>C	XP_011518859.1:p.Leu262Ser
XM_011520558.1:c.740T>C	XP_011518860.1:p.Leu247Ser
XM_011520559.1:c.572T>C	XP_011518861.1:p.Leu191Ser
NM_001330373.1:c.1058T>C	NP_001317302.1:p.Leu353Ser
NM_001330374.1:c.1058T>C	NP_001317303.1:p.Leu353Ser
XM_005253304.4:c.1829T>C	XP_005253361.1:p.Leu610Ser
XM_005253308.5:c.1058T>C	XP_005253365.1:p.Leu353Ser
XM_005253310.4:c.593T>C	XP_005253367.1:p.Leu198Ser
XM_011520558.2:c.740T>C	XP_011518860.1:p.Leu247Ser
XM_011520559.3:c.572T>C	XP_011518861.1:p.Leu191Ser
XM_017018803.1:c.1829T>C	XP_016874292.1:p.Leu610Ser
XM_017018805.1:c.785T>C	XP_016874294.1:p.Leu262Ser
XM_024448837.1:c.1058T>C	XP_024304605.1:p.Leu353Ser
XM_024448838.1:c.1058T>C	XP_024304606.1:p.Leu353Ser
XM_024448839.1:c.1058T>C	XP_024304607.1:p.Leu353Ser
XM_024448840.1:c.446T>C	XP_024304608.1:p.Leu149Ser
XR_001748576.1:n.2038T>C
NM_001370297.1:c.785T>C	NP_001357226.1:p.Leu262Ser
NM_001370298.1:c.1829T>C	NP_001357227.1:p.Leu610Ser
NM_001304483.2:c.593T>C	NP_001291412.1:p.Leu198Ser
NM_001304484.2:c.305T>C	NP_001291413.1:p.Leu102Ser
NM_001330373.2:c.1058T>C	NP_001317302.1:p.Leu353Ser
NM_001330374.2:c.1058T>C	NP_001317303.1:p.Leu353Ser
NM_001370298.3:c.1748T>C MANE Select	NP_001357227.2:p.Leu583Ser
NM_001384126.1:c.1748T>C	NP_001371055.1:p.Leu583Ser
NM_001384127.1:c.1337T>C	NP_001371056.1:p.Leu446Ser
NM_001384128.1:c.1337T>C	NP_001371057.1:p.Leu446Ser
NM_001384130.1:c.1058T>C	NP_001371059.1:p.Leu353Ser
NM_001385118.1:c.1337T>C	NP_001372047.1:p.Leu446Ser