Canonical Allele Identifier: CA479169321

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32778677G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32625743G>T , CM000674.2:g.32625743G>T	GRCh38
NC_000012.11:g.32778677G>T , CM000674.1:g.32778677G>T	GRCh37
NC_000012.10:g.32669944G>T	NCBI36
NG_008626.2:g.231215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.1725G>T	ENSP00000394487.2:p.Leu575=
ENST00000531134.7:c.1980G>T	ENSP00000431323.1:p.Leu660=
ENST00000583694.2:c.1725G>T	ENSP00000462623.2:p.Leu575=
ENST00000682739.1:c.1446G>T	ENSP00000507616.1:p.Leu482=
ENST00000683182.1:c.537G>T	ENSP00000507831.1:p.Leu179=
ENST00000683515.1:n.1232G>T
ENST00000684033.1:n.523G>T
ENST00000525053.6:c.1725G>T	ENSP00000433666.2:p.Leu575=
ENST00000531134.6:c.1980G>T	ENSP00000431323.1:p.Leu660=
ENST00000534526.7:c.2136G>T MANE Select	ENSP00000449273.1:p.Leu712=
ENST00000395740.5:c.*1117G>T	ENSP00000379089.1:n.*1117G>T
ENST00000427716.6:c.1725G>T	ENSP00000394487.2:p.Leu575=
ENST00000493087.5:c.*1136G>T	ENSP00000437109.1:n.*1136G>T
ENST00000494977.1:c.1407G>T
ENST00000525053.5:c.2061G>T	ENSP00000433666.1:p.Leu687=
ENST00000531134.5:c.1980G>T	ENSP00000431323.1:p.Leu660=
ENST00000534526.6:c.2136G>T	ENSP00000449273.1:p.Leu712=
ENST00000546442.5:c.1446G>T	ENSP00000446695.1:p.Leu482=
ENST00000551984.5:c.*1094G>T	ENSP00000449614.1:n.*1094G>T
NM_001304480.1:c.2061G>T	NP_001291409.1:p.Leu687=
NM_001304481.1:c.1980G>T	NP_001291410.1:p.Leu660=
NM_001304483.1:c.981G>T	NP_001291412.1:p.Leu327=
NM_001304484.1:c.693G>T	NP_001291413.1:p.Leu231=
NM_139241.3:c.1725G>T	NP_640334.2:p.Leu575=
XM_005253304.3:c.2217G>T	XP_005253361.1:p.Leu739=
XM_005253307.2:c.1446G>T	XP_005253364.1:p.Leu482=
XM_005253308.3:c.1446G>T	XP_005253365.1:p.Leu482=
XM_005253309.1:c.1446G>T	XP_005253366.1:p.Leu482=
XM_005253310.3:c.981G>T	XP_005253367.1:p.Leu327=
XM_011520554.1:c.2019G>T	XP_011518856.1:p.Leu673=
XM_011520555.1:c.1725G>T	XP_011518857.1:p.Leu575=
XM_011520556.1:c.1725G>T	XP_011518858.1:p.Leu575=
XM_011520557.1:c.1173G>T	XP_011518859.1:p.Leu391=
XM_011520558.1:c.1128G>T	XP_011518860.1:p.Leu376=
XM_011520559.1:c.960G>T	XP_011518861.1:p.Leu320=
NM_001330373.1:c.1446G>T	NP_001317302.1:p.Leu482=
NM_001330374.1:c.1446G>T	NP_001317303.1:p.Leu482=
XM_005253304.4:c.2217G>T	XP_005253361.1:p.Leu739=
XM_005253308.5:c.1446G>T	XP_005253365.1:p.Leu482=
XM_005253310.4:c.981G>T	XP_005253367.1:p.Leu327=
XM_011520558.2:c.1128G>T	XP_011518860.1:p.Leu376=
XM_011520559.3:c.960G>T	XP_011518861.1:p.Leu320=
XM_017018803.1:c.2217G>T	XP_016874292.1:p.Leu739=
XM_017018805.1:c.1173G>T	XP_016874294.1:p.Leu391=
XM_024448837.1:c.1446G>T	XP_024304605.1:p.Leu482=
XM_024448838.1:c.1446G>T	XP_024304606.1:p.Leu482=
XM_024448839.1:c.1446G>T	XP_024304607.1:p.Leu482=
XM_024448840.1:c.834G>T	XP_024304608.1:p.Leu278=
NM_001370297.1:c.1173G>T	NP_001357226.1:p.Leu391=
NM_001370298.1:c.2217G>T	NP_001357227.1:p.Leu739=
NM_001304483.2:c.981G>T	NP_001291412.1:p.Leu327=
NM_001304484.2:c.693G>T	NP_001291413.1:p.Leu231=
NM_001330373.2:c.1446G>T	NP_001317302.1:p.Leu482=
NM_001330374.2:c.1446G>T	NP_001317303.1:p.Leu482=
NM_001370298.3:c.2136G>T MANE Select	NP_001357227.2:p.Leu712=
NM_001384126.1:c.2136G>T	NP_001371055.1:p.Leu712=
NM_001384127.1:c.1725G>T	NP_001371056.1:p.Leu575=
NM_001384128.1:c.1725G>T	NP_001371057.1:p.Leu575=
NM_001384130.1:c.1446G>T	NP_001371059.1:p.Leu482=
NM_001385118.1:c.1725G>T	NP_001372047.1:p.Leu575=