Canonical Allele Identifier: CA384357203

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32751513T>G (hg19) ; chr12:g.32598579T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598579T>G , CM000674.2:g.32598579T>G	GRCh38
NC_000012.11:g.32751513T>G , CM000674.1:g.32751513T>G	GRCh37
NC_000012.10:g.32642780T>G	NCBI36
NG_008626.2:g.204051T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000427716.7:c.683T>G	ENSP00000394487.2:p.Leu228Ter
ENST00000531134.7:c.938T>G	ENSP00000431323.1:p.Leu313Ter
ENST00000583694.2:c.683T>G	ENSP00000462623.2:p.Leu228Ter
ENST00000682739.1:c.404T>G	ENSP00000507616.1:p.Leu135Ter
ENST00000683182.1:c.-367T>G	ENSP00000507831.1:n.-367T>G
ENST00000683515.1:n.190T>G
ENST00000525053.6:c.683T>G	ENSP00000433666.2:p.Leu228Ter
ENST00000531134.6:c.938T>G	ENSP00000431323.1:p.Leu313Ter
ENST00000534526.7:c.1094T>G MANE Select	ENSP00000449273.1:p.Leu365Ter
ENST00000395740.5:c.683T>G	ENSP00000379089.1:p.Leu228Ter
ENST00000427716.6:c.683T>G	ENSP00000394487.2:p.Leu228Ter
ENST00000493087.5:c.683T>G	ENSP00000437109.1:p.Leu228Ter
ENST00000494977.1:c.172T>G
ENST00000525053.5:c.1019T>G	ENSP00000433666.1:p.Leu340Ter
ENST00000531134.5:c.938T>G	ENSP00000431323.1:p.Leu313Ter
ENST00000534526.6:c.1094T>G	ENSP00000449273.1:p.Leu365Ter
ENST00000546442.5:c.404T>G	ENSP00000446695.1:p.Leu135Ter
ENST00000551984.5:c.*52T>G	ENSP00000449614.1:n.*52T>G
NM_001304480.1:c.1019T>G	NP_001291409.1:p.Leu340Ter
NM_001304481.1:c.938T>G	NP_001291410.1:p.Leu313Ter
NM_001304483.1:c.-162T>G	NP_001291412.1:n.-162T>G
NM_001304484.1:c.-469T>G	NP_001291413.1:n.-469T>G
NM_139241.3:c.683T>G	NP_640334.2:p.Leu228Ter
XM_005253304.3:c.1175T>G	XP_005253361.1:p.Leu392Ter
XM_005253307.2:c.404T>G	XP_005253364.1:p.Leu135Ter
XM_005253308.3:c.404T>G	XP_005253365.1:p.Leu135Ter
XM_005253309.1:c.404T>G	XP_005253366.1:p.Leu135Ter
XM_011520554.1:c.977T>G	XP_011518856.1:p.Leu326Ter
XM_011520555.1:c.683T>G	XP_011518857.1:p.Leu228Ter
XM_011520556.1:c.683T>G	XP_011518858.1:p.Leu228Ter
XM_011520557.1:c.131T>G	XP_011518859.1:p.Leu44Ter
XM_011520558.1:c.86T>G	XP_011518860.1:p.Leu29Ter
NM_001330373.1:c.404T>G	NP_001317302.1:p.Leu135Ter
NM_001330374.1:c.404T>G	NP_001317303.1:p.Leu135Ter
XM_005253304.4:c.1175T>G	XP_005253361.1:p.Leu392Ter
XM_005253308.5:c.404T>G	XP_005253365.1:p.Leu135Ter
XM_005253310.4:c.-162T>G	XP_005253367.1:n.-162T>G
XM_011520558.2:c.86T>G	XP_011518860.1:p.Leu29Ter
XM_017018803.1:c.1175T>G	XP_016874292.1:p.Leu392Ter
XM_017018805.1:c.131T>G	XP_016874294.1:p.Leu44Ter
XM_024448837.1:c.404T>G	XP_024304605.1:p.Leu135Ter
XM_024448838.1:c.404T>G	XP_024304606.1:p.Leu135Ter
XM_024448839.1:c.404T>G	XP_024304607.1:p.Leu135Ter
XM_024448840.1:c.-120T>G	XP_024304608.1:n.-120T>G
XR_001748576.1:n.1365T>G
NM_001370297.1:c.131T>G	NP_001357226.1:p.Leu44Ter
NM_001370298.1:c.1175T>G	NP_001357227.1:p.Leu392Ter
NM_001304483.2:c.-162T>G	NP_001291412.1:n.-162T>G
NM_001304484.2:c.-469T>G	NP_001291413.1:n.-469T>G
NM_001330373.2:c.404T>G	NP_001317302.1:p.Leu135Ter
NM_001330374.2:c.404T>G	NP_001317303.1:p.Leu135Ter
NM_001370298.3:c.1094T>G MANE Select	NP_001357227.2:p.Leu365Ter
NM_001384126.1:c.1094T>G	NP_001371055.1:p.Leu365Ter
NM_001384127.1:c.683T>G	NP_001371056.1:p.Leu228Ter
NM_001384128.1:c.683T>G	NP_001371057.1:p.Leu228Ter
NM_001384130.1:c.404T>G	NP_001371059.1:p.Leu135Ter
NM_001385118.1:c.683T>G	NP_001372047.1:p.Leu228Ter