Canonical Allele Identifier: CA479166608

Gene: FGD4

Linked Data

• gnomAD v4: 12-32598586-G-A
• MyVariant Identifiers: chr12:g.32751520G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598586G>A , CM000674.2:g.32598586G>A	GRCh38
NC_000012.11:g.32751520G>A , CM000674.1:g.32751520G>A	GRCh37
NC_000012.10:g.32642787G>A	NCBI36
NG_008626.2:g.204058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.690G>A	ENSP00000394487.2:p.Gln230=
ENST00000531134.7:c.945G>A	ENSP00000431323.1:p.Gln315=
ENST00000583694.2:c.690G>A	ENSP00000462623.2:p.Gln230=
ENST00000682739.1:c.411G>A	ENSP00000507616.1:p.Gln137=
ENST00000683182.1:c.-360G>A	ENSP00000507831.1:n.-360G>A
ENST00000683515.1:n.197G>A
ENST00000525053.6:c.690G>A	ENSP00000433666.2:p.Gln230=
ENST00000531134.6:c.945G>A	ENSP00000431323.1:p.Gln315=
ENST00000534526.7:c.1101G>A MANE Select	ENSP00000449273.1:p.Gln367=
ENST00000395740.5:c.690G>A	ENSP00000379089.1:p.Gln230=
ENST00000427716.6:c.690G>A	ENSP00000394487.2:p.Gln230=
ENST00000493087.5:c.690G>A	ENSP00000437109.1:p.Gln230=
ENST00000494977.1:c.179G>A
ENST00000525053.5:c.1026G>A	ENSP00000433666.1:p.Gln342=
ENST00000531134.5:c.945G>A	ENSP00000431323.1:p.Gln315=
ENST00000534526.6:c.1101G>A	ENSP00000449273.1:p.Gln367=
ENST00000546442.5:c.411G>A	ENSP00000446695.1:p.Gln137=
ENST00000551984.5:c.*59G>A	ENSP00000449614.1:n.*59G>A
NM_001304480.1:c.1026G>A	NP_001291409.1:p.Gln342=
NM_001304481.1:c.945G>A	NP_001291410.1:p.Gln315=
NM_001304483.1:c.-155G>A	NP_001291412.1:n.-155G>A
NM_001304484.1:c.-462G>A	NP_001291413.1:n.-462G>A
NM_139241.3:c.690G>A	NP_640334.2:p.Gln230=
XM_005253304.3:c.1182G>A	XP_005253361.1:p.Gln394=
XM_005253307.2:c.411G>A	XP_005253364.1:p.Gln137=
XM_005253308.3:c.411G>A	XP_005253365.1:p.Gln137=
XM_005253309.1:c.411G>A	XP_005253366.1:p.Gln137=
XM_011520554.1:c.984G>A	XP_011518856.1:p.Gln328=
XM_011520555.1:c.690G>A	XP_011518857.1:p.Gln230=
XM_011520556.1:c.690G>A	XP_011518858.1:p.Gln230=
XM_011520557.1:c.138G>A	XP_011518859.1:p.Gln46=
XM_011520558.1:c.93G>A	XP_011518860.1:p.Gln31=
NM_001330373.1:c.411G>A	NP_001317302.1:p.Gln137=
NM_001330374.1:c.411G>A	NP_001317303.1:p.Gln137=
XM_005253304.4:c.1182G>A	XP_005253361.1:p.Gln394=
XM_005253308.5:c.411G>A	XP_005253365.1:p.Gln137=
XM_005253310.4:c.-155G>A	XP_005253367.1:n.-155G>A
XM_011520558.2:c.93G>A	XP_011518860.1:p.Gln31=
XM_017018803.1:c.1182G>A	XP_016874292.1:p.Gln394=
XM_017018805.1:c.138G>A	XP_016874294.1:p.Gln46=
XM_024448837.1:c.411G>A	XP_024304605.1:p.Gln137=
XM_024448838.1:c.411G>A	XP_024304606.1:p.Gln137=
XM_024448839.1:c.411G>A	XP_024304607.1:p.Gln137=
XM_024448840.1:c.-113G>A	XP_024304608.1:n.-113G>A
XR_001748576.1:n.1372G>A
NM_001370297.1:c.138G>A	NP_001357226.1:p.Gln46=
NM_001370298.1:c.1182G>A	NP_001357227.1:p.Gln394=
NM_001304483.2:c.-155G>A	NP_001291412.1:n.-155G>A
NM_001304484.2:c.-462G>A	NP_001291413.1:n.-462G>A
NM_001330373.2:c.411G>A	NP_001317302.1:p.Gln137=
NM_001330374.2:c.411G>A	NP_001317303.1:p.Gln137=
NM_001370298.3:c.1101G>A MANE Select	NP_001357227.2:p.Gln367=
NM_001384126.1:c.1101G>A	NP_001371055.1:p.Gln367=
NM_001384127.1:c.690G>A	NP_001371056.1:p.Gln230=
NM_001384128.1:c.690G>A	NP_001371057.1:p.Gln230=
NM_001384130.1:c.411G>A	NP_001371059.1:p.Gln137=
NM_001385118.1:c.690G>A	NP_001372047.1:p.Gln230=