Canonical Allele Identifier: CA384358081

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32754254T>C (hg19) ; chr12:g.32601320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32601320T>C , CM000674.2:g.32601320T>C	GRCh38
NC_000012.11:g.32754254T>C , CM000674.1:g.32754254T>C	GRCh37
NC_000012.10:g.32645521T>C	NCBI36
NG_008626.2:g.206792T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000427716.7:c.733T>C	ENSP00000394487.2:p.Phe245Leu
ENST00000531134.7:c.988T>C	ENSP00000431323.1:p.Phe330Leu
ENST00000583694.2:c.733T>C	ENSP00000462623.2:p.Phe245Leu
ENST00000682739.1:c.454T>C	ENSP00000507616.1:p.Phe152Leu
ENST00000683182.1:c.-317T>C	ENSP00000507831.1:n.-317T>C
ENST00000683515.1:n.240T>C
ENST00000525053.6:c.733T>C	ENSP00000433666.2:p.Phe245Leu
ENST00000531134.6:c.988T>C	ENSP00000431323.1:p.Phe330Leu
ENST00000534526.7:c.1144T>C MANE Select	ENSP00000449273.1:p.Phe382Leu
ENST00000395740.5:c.*125T>C	ENSP00000379089.1:n.*125T>C
ENST00000427716.6:c.733T>C	ENSP00000394487.2:p.Phe245Leu
ENST00000493087.5:c.*125T>C	ENSP00000437109.1:n.*125T>C
ENST00000494977.1:c.322T>C
ENST00000525053.5:c.1069T>C	ENSP00000433666.1:p.Phe357Leu
ENST00000531134.5:c.988T>C	ENSP00000431323.1:p.Phe330Leu
ENST00000534526.6:c.1144T>C	ENSP00000449273.1:p.Phe382Leu
ENST00000546442.5:c.454T>C	ENSP00000446695.1:p.Phe152Leu
ENST00000551984.5:c.*102T>C	ENSP00000449614.1:n.*102T>C
NM_001304480.1:c.1069T>C	NP_001291409.1:p.Phe357Leu
NM_001304481.1:c.988T>C	NP_001291410.1:p.Phe330Leu
NM_001304483.1:c.-12T>C	NP_001291412.1:n.-12T>C
NM_001304484.1:c.-319T>C	NP_001291413.1:n.-319T>C
NM_139241.3:c.733T>C	NP_640334.2:p.Phe245Leu
XM_005253304.3:c.1225T>C	XP_005253361.1:p.Phe409Leu
XM_005253307.2:c.454T>C	XP_005253364.1:p.Phe152Leu
XM_005253308.3:c.454T>C	XP_005253365.1:p.Phe152Leu
XM_005253309.1:c.454T>C	XP_005253366.1:p.Phe152Leu
XM_005253310.3:c.-12T>C	XP_005253367.1:n.-12T>C
XM_011520554.1:c.1027T>C	XP_011518856.1:p.Phe343Leu
XM_011520555.1:c.733T>C	XP_011518857.1:p.Phe245Leu
XM_011520556.1:c.733T>C	XP_011518858.1:p.Phe245Leu
XM_011520557.1:c.181T>C	XP_011518859.1:p.Phe61Leu
XM_011520558.1:c.136T>C	XP_011518860.1:p.Phe46Leu
XM_011520559.1:c.57T>C	XP_011518861.1:p.Arg19=
NM_001330373.1:c.454T>C	NP_001317302.1:p.Phe152Leu
NM_001330374.1:c.454T>C	NP_001317303.1:p.Phe152Leu
XM_005253304.4:c.1225T>C	XP_005253361.1:p.Phe409Leu
XM_005253308.5:c.454T>C	XP_005253365.1:p.Phe152Leu
XM_005253310.4:c.-12T>C	XP_005253367.1:n.-12T>C
XM_011520558.2:c.136T>C	XP_011518860.1:p.Phe46Leu
XM_011520559.3:c.57T>C	XP_011518861.1:p.Arg19=
XM_017018803.1:c.1225T>C	XP_016874292.1:p.Phe409Leu
XM_017018805.1:c.181T>C	XP_016874294.1:p.Phe61Leu
XM_024448837.1:c.454T>C	XP_024304605.1:p.Phe152Leu
XM_024448838.1:c.454T>C	XP_024304606.1:p.Phe152Leu
XM_024448839.1:c.454T>C	XP_024304607.1:p.Phe152Leu
XM_024448840.1:c.-70T>C	XP_024304608.1:n.-70T>C
XR_001748576.1:n.1415T>C
NM_001370297.1:c.181T>C	NP_001357226.1:p.Phe61Leu
NM_001370298.1:c.1225T>C	NP_001357227.1:p.Phe409Leu
NM_001304483.2:c.-12T>C	NP_001291412.1:n.-12T>C
NM_001304484.2:c.-319T>C	NP_001291413.1:n.-319T>C
NM_001330373.2:c.454T>C	NP_001317302.1:p.Phe152Leu
NM_001330374.2:c.454T>C	NP_001317303.1:p.Phe152Leu
NM_001370298.3:c.1144T>C MANE Select	NP_001357227.2:p.Phe382Leu
NM_001384126.1:c.1144T>C	NP_001371055.1:p.Phe382Leu
NM_001384127.1:c.733T>C	NP_001371056.1:p.Phe245Leu
NM_001384128.1:c.733T>C	NP_001371057.1:p.Phe245Leu
NM_001384130.1:c.454T>C	NP_001371059.1:p.Phe152Leu
NM_001385118.1:c.733T>C	NP_001372047.1:p.Phe245Leu