Canonical Allele Identifier: CA6506693

Gene: FGD4

Linked Data

• dbSNP Id: rs759095061
• ExAC: 12:32751518 C / G
• gnomAD v2: 12-32751518-C-G
• gnomAD v4: 12-32598584-C-G
• MyVariant Identifiers: chr12:g.32751518C>G (hg19) ; chr12:g.32598584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598584C>G , CM000674.2:g.32598584C>G	GRCh38
NC_000012.11:g.32751518C>G , CM000674.1:g.32751518C>G	GRCh37
NC_000012.10:g.32642785C>G	NCBI36
NG_008626.2:g.204056C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.688C>G	ENSP00000394487.2:p.Gln230Glu
ENST00000531134.7:c.943C>G	ENSP00000431323.1:p.Gln315Glu
ENST00000583694.2:c.688C>G	ENSP00000462623.2:p.Gln230Glu
ENST00000682739.1:c.409C>G	ENSP00000507616.1:p.Gln137Glu
ENST00000683182.1:c.-362C>G	ENSP00000507831.1:n.-362C>G
ENST00000683515.1:n.195C>G
ENST00000525053.6:c.688C>G	ENSP00000433666.2:p.Gln230Glu
ENST00000531134.6:c.943C>G	ENSP00000431323.1:p.Gln315Glu
ENST00000534526.7:c.1099C>G MANE Select	ENSP00000449273.1:p.Gln367Glu
ENST00000395740.5:c.688C>G	ENSP00000379089.1:p.Gln230Glu
ENST00000427716.6:c.688C>G	ENSP00000394487.2:p.Gln230Glu
ENST00000493087.5:c.688C>G	ENSP00000437109.1:p.Gln230Glu
ENST00000494977.1:c.177C>G
ENST00000525053.5:c.1024C>G	ENSP00000433666.1:p.Gln342Glu
ENST00000531134.5:c.943C>G	ENSP00000431323.1:p.Gln315Glu
ENST00000534526.6:c.1099C>G	ENSP00000449273.1:p.Gln367Glu
ENST00000546442.5:c.409C>G	ENSP00000446695.1:p.Gln137Glu
ENST00000551984.5:c.*57C>G	ENSP00000449614.1:n.*57C>G
NM_001304480.1:c.1024C>G	NP_001291409.1:p.Gln342Glu
NM_001304481.1:c.943C>G	NP_001291410.1:p.Gln315Glu
NM_001304483.1:c.-157C>G	NP_001291412.1:n.-157C>G
NM_001304484.1:c.-464C>G	NP_001291413.1:n.-464C>G
NM_139241.3:c.688C>G	NP_640334.2:p.Gln230Glu
XM_005253304.3:c.1180C>G	XP_005253361.1:p.Gln394Glu
XM_005253307.2:c.409C>G	XP_005253364.1:p.Gln137Glu
XM_005253308.3:c.409C>G	XP_005253365.1:p.Gln137Glu
XM_005253309.1:c.409C>G	XP_005253366.1:p.Gln137Glu
XM_011520554.1:c.982C>G	XP_011518856.1:p.Gln328Glu
XM_011520555.1:c.688C>G	XP_011518857.1:p.Gln230Glu
XM_011520556.1:c.688C>G	XP_011518858.1:p.Gln230Glu
XM_011520557.1:c.136C>G	XP_011518859.1:p.Gln46Glu
XM_011520558.1:c.91C>G	XP_011518860.1:p.Gln31Glu
NM_001330373.1:c.409C>G	NP_001317302.1:p.Gln137Glu
NM_001330374.1:c.409C>G	NP_001317303.1:p.Gln137Glu
XM_005253304.4:c.1180C>G	XP_005253361.1:p.Gln394Glu
XM_005253308.5:c.409C>G	XP_005253365.1:p.Gln137Glu
XM_005253310.4:c.-157C>G	XP_005253367.1:n.-157C>G
XM_011520558.2:c.91C>G	XP_011518860.1:p.Gln31Glu
XM_017018803.1:c.1180C>G	XP_016874292.1:p.Gln394Glu
XM_017018805.1:c.136C>G	XP_016874294.1:p.Gln46Glu
XM_024448837.1:c.409C>G	XP_024304605.1:p.Gln137Glu
XM_024448838.1:c.409C>G	XP_024304606.1:p.Gln137Glu
XM_024448839.1:c.409C>G	XP_024304607.1:p.Gln137Glu
XM_024448840.1:c.-115C>G	XP_024304608.1:n.-115C>G
XR_001748576.1:n.1370C>G
NM_001370297.1:c.136C>G	NP_001357226.1:p.Gln46Glu
NM_001370298.1:c.1180C>G	NP_001357227.1:p.Gln394Glu
NM_001304483.2:c.-157C>G	NP_001291412.1:n.-157C>G
NM_001304484.2:c.-464C>G	NP_001291413.1:n.-464C>G
NM_001330373.2:c.409C>G	NP_001317302.1:p.Gln137Glu
NM_001330374.2:c.409C>G	NP_001317303.1:p.Gln137Glu
NM_001370298.3:c.1099C>G MANE Select	NP_001357227.2:p.Gln367Glu
NM_001384126.1:c.1099C>G	NP_001371055.1:p.Gln367Glu
NM_001384127.1:c.688C>G	NP_001371056.1:p.Gln230Glu
NM_001384128.1:c.688C>G	NP_001371057.1:p.Gln230Glu
NM_001384130.1:c.409C>G	NP_001371059.1:p.Gln137Glu
NM_001385118.1:c.688C>G	NP_001372047.1:p.Gln230Glu