Canonical Allele Identifier: CA6506688

Gene: FGD4

Linked Data

• dbSNP Id: rs772027593
• ExAC: 12:32751503 C / T
• gnomAD v2: 12-32751503-C-T
• gnomAD v4: 12-32598569-C-T
• MyVariant Identifiers: chr12:g.32751503C>T (hg19) ; chr12:g.32598569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598569C>T , CM000674.2:g.32598569C>T	GRCh38
NC_000012.11:g.32751503C>T , CM000674.1:g.32751503C>T	GRCh37
NC_000012.10:g.32642770C>T	NCBI36
NG_008626.2:g.204041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.673C>T	ENSP00000394487.2:p.Leu225Phe
ENST00000531134.7:c.928C>T	ENSP00000431323.1:p.Leu310Phe
ENST00000583694.2:c.673C>T	ENSP00000462623.2:p.Leu225Phe
ENST00000682739.1:c.394C>T	ENSP00000507616.1:p.Leu132Phe
ENST00000683182.1:c.-377C>T	ENSP00000507831.1:n.-377C>T
ENST00000683515.1:n.180C>T
ENST00000525053.6:c.673C>T	ENSP00000433666.2:p.Leu225Phe
ENST00000531134.6:c.928C>T	ENSP00000431323.1:p.Leu310Phe
ENST00000534526.7:c.1084C>T MANE Select	ENSP00000449273.1:p.Leu362Phe
ENST00000395740.5:c.673C>T	ENSP00000379089.1:p.Leu225Phe
ENST00000427716.6:c.673C>T	ENSP00000394487.2:p.Leu225Phe
ENST00000493087.5:c.673C>T	ENSP00000437109.1:p.Leu225Phe
ENST00000494977.1:c.162C>T
ENST00000525053.5:c.1009C>T	ENSP00000433666.1:p.Leu337Phe
ENST00000531134.5:c.928C>T	ENSP00000431323.1:p.Leu310Phe
ENST00000534526.6:c.1084C>T	ENSP00000449273.1:p.Leu362Phe
ENST00000546442.5:c.394C>T	ENSP00000446695.1:p.Leu132Phe
ENST00000551984.5:c.*42C>T	ENSP00000449614.1:n.*42C>T
NM_001304480.1:c.1009C>T	NP_001291409.1:p.Leu337Phe
NM_001304481.1:c.928C>T	NP_001291410.1:p.Leu310Phe
NM_001304483.1:c.-172C>T	NP_001291412.1:n.-172C>T
NM_001304484.1:c.-479C>T	NP_001291413.1:n.-479C>T
NM_139241.3:c.673C>T	NP_640334.2:p.Leu225Phe
XM_005253304.3:c.1165C>T	XP_005253361.1:p.Leu389Phe
XM_005253307.2:c.394C>T	XP_005253364.1:p.Leu132Phe
XM_005253308.3:c.394C>T	XP_005253365.1:p.Leu132Phe
XM_005253309.1:c.394C>T	XP_005253366.1:p.Leu132Phe
XM_011520554.1:c.967C>T	XP_011518856.1:p.Leu323Phe
XM_011520555.1:c.673C>T	XP_011518857.1:p.Leu225Phe
XM_011520556.1:c.673C>T	XP_011518858.1:p.Leu225Phe
XM_011520557.1:c.121C>T	XP_011518859.1:p.Leu41Phe
XM_011520558.1:c.76C>T	XP_011518860.1:p.Leu26Phe
NM_001330373.1:c.394C>T	NP_001317302.1:p.Leu132Phe
NM_001330374.1:c.394C>T	NP_001317303.1:p.Leu132Phe
XM_005253304.4:c.1165C>T	XP_005253361.1:p.Leu389Phe
XM_005253308.5:c.394C>T	XP_005253365.1:p.Leu132Phe
XM_005253310.4:c.-172C>T	XP_005253367.1:n.-172C>T
XM_011520558.2:c.76C>T	XP_011518860.1:p.Leu26Phe
XM_017018803.1:c.1165C>T	XP_016874292.1:p.Leu389Phe
XM_017018805.1:c.121C>T	XP_016874294.1:p.Leu41Phe
XM_024448837.1:c.394C>T	XP_024304605.1:p.Leu132Phe
XM_024448838.1:c.394C>T	XP_024304606.1:p.Leu132Phe
XM_024448839.1:c.394C>T	XP_024304607.1:p.Leu132Phe
XM_024448840.1:c.-130C>T	XP_024304608.1:n.-130C>T
XR_001748576.1:n.1355C>T
NM_001370297.1:c.121C>T	NP_001357226.1:p.Leu41Phe
NM_001370298.1:c.1165C>T	NP_001357227.1:p.Leu389Phe
NM_001304483.2:c.-172C>T	NP_001291412.1:n.-172C>T
NM_001304484.2:c.-479C>T	NP_001291413.1:n.-479C>T
NM_001330373.2:c.394C>T	NP_001317302.1:p.Leu132Phe
NM_001330374.2:c.394C>T	NP_001317303.1:p.Leu132Phe
NM_001370298.3:c.1084C>T MANE Select	NP_001357227.2:p.Leu362Phe
NM_001384126.1:c.1084C>T	NP_001371055.1:p.Leu362Phe
NM_001384127.1:c.673C>T	NP_001371056.1:p.Leu225Phe
NM_001384128.1:c.673C>T	NP_001371057.1:p.Leu225Phe
NM_001384130.1:c.394C>T	NP_001371059.1:p.Leu132Phe
NM_001385118.1:c.673C>T	NP_001372047.1:p.Leu225Phe