Canonical Allele Identifier: CA479386472

Gene: FGD4

Linked Data

• gnomAD v4: 12-32640290-G-A
• MyVariant Identifiers: chr12:g.32793224G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32640290G>A , CM000674.2:g.32640290G>A	GRCh38
NC_000012.11:g.32793224G>A , CM000674.1:g.32793224G>A	GRCh37
NC_000012.10:g.32684491G>A	NCBI36
NG_008626.2:g.245762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.2058G>A	ENSP00000394487.2:p.Gln686=
ENST00000531134.7:c.2313G>A	ENSP00000431323.1:p.Gln771=
ENST00000583694.2:c.2058G>A	ENSP00000462623.2:p.Gln686=
ENST00000682739.1:c.1779G>A	ENSP00000507616.1:p.Gln593=
ENST00000683182.1:c.870G>A	ENSP00000507831.1:p.Gln290=
ENST00000684033.1:n.856G>A
ENST00000525053.6:c.2058G>A	ENSP00000433666.2:p.Gln686=
ENST00000531134.6:c.2313G>A	ENSP00000431323.1:p.Gln771=
ENST00000534526.7:c.2469G>A MANE Select	ENSP00000449273.1:p.Gln823=
ENST00000427716.6:c.2058G>A	ENSP00000394487.2:p.Gln686=
ENST00000493087.5:c.*1469G>A	ENSP00000437109.1:n.*1469G>A
ENST00000494977.1:c.1946G>A
ENST00000525053.5:c.2394G>A	ENSP00000433666.1:p.Gln798=
ENST00000531134.5:c.2313G>A	ENSP00000431323.1:p.Gln771=
ENST00000534526.6:c.2469G>A	ENSP00000449273.1:p.Gln823=
ENST00000546442.5:c.1779G>A	ENSP00000446695.1:p.Gln593=
ENST00000551984.5:c.*1427G>A	ENSP00000449614.1:n.*1427G>A
NM_001304480.1:c.2394G>A	NP_001291409.1:p.Gln798=
NM_001304481.1:c.2313G>A	NP_001291410.1:p.Gln771=
NM_001304484.1:c.1026G>A	NP_001291413.1:p.Gln342=
NM_139241.3:c.2058G>A	NP_640334.2:p.Gln686=
XM_005253304.3:c.2550G>A	XP_005253361.1:p.Gln850=
XM_005253307.2:c.1779G>A	XP_005253364.1:p.Gln593=
XM_005253308.3:c.1779G>A	XP_005253365.1:p.Gln593=
XM_005253309.1:c.1779G>A	XP_005253366.1:p.Gln593=
XM_005253310.3:c.1314G>A	XP_005253367.1:p.Gln438=
XM_011520554.1:c.2352G>A	XP_011518856.1:p.Gln784=
XM_011520555.1:c.2058G>A	XP_011518857.1:p.Gln686=
XM_011520556.1:c.2058G>A	XP_011518858.1:p.Gln686=
XM_011520557.1:c.1506G>A	XP_011518859.1:p.Gln502=
XM_011520558.1:c.1461G>A	XP_011518860.1:p.Gln487=
XM_011520559.1:c.1293G>A	XP_011518861.1:p.Gln431=
NM_001330373.1:c.1779G>A	NP_001317302.1:p.Gln593=
NM_001330374.1:c.1779G>A	NP_001317303.1:p.Gln593=
XM_005253304.4:c.2550G>A	XP_005253361.1:p.Gln850=
XM_005253308.5:c.1779G>A	XP_005253365.1:p.Gln593=
XM_005253310.4:c.1314G>A	XP_005253367.1:p.Gln438=
XM_011520558.2:c.1461G>A	XP_011518860.1:p.Gln487=
XM_011520559.3:c.1293G>A	XP_011518861.1:p.Gln431=
XM_017018803.1:c.2550G>A	XP_016874292.1:p.Gln850=
XM_017018805.1:c.1506G>A	XP_016874294.1:p.Gln502=
XM_024448837.1:c.1779G>A	XP_024304605.1:p.Gln593=
XM_024448838.1:c.1779G>A	XP_024304606.1:p.Gln593=
XM_024448839.1:c.1779G>A	XP_024304607.1:p.Gln593=
XM_024448840.1:c.1167G>A	XP_024304608.1:p.Gln389=
NM_001370297.1:c.1506G>A	NP_001357226.1:p.Gln502=
NM_001370298.1:c.2550G>A	NP_001357227.1:p.Gln850=
NM_001304484.2:c.1026G>A	NP_001291413.1:p.Gln342=
NM_001330373.2:c.1779G>A	NP_001317302.1:p.Gln593=
NM_001330374.2:c.1779G>A	NP_001317303.1:p.Gln593=
NM_001370298.3:c.2469G>A MANE Select	NP_001357227.2:p.Gln823=
NM_001384126.1:c.2469G>A	NP_001371055.1:p.Gln823=
NM_001384127.1:c.2058G>A	NP_001371056.1:p.Gln686=
NM_001384128.1:c.2058G>A	NP_001371057.1:p.Gln686=
NM_001384130.1:c.1779G>A	NP_001371059.1:p.Gln593=
NM_001385118.1:c.2058G>A	NP_001372047.1:p.Gln686=