Canonical Allele Identifier: CA384367400

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32778621A>C (hg19) ; chr12:g.32625687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32625687A>C , CM000674.2:g.32625687A>C	GRCh38
NC_000012.11:g.32778621A>C , CM000674.1:g.32778621A>C	GRCh37
NC_000012.10:g.32669888A>C	NCBI36
NG_008626.2:g.231159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.1669A>C	ENSP00000394487.2:p.Ile557Leu
ENST00000531134.7:c.1924A>C	ENSP00000431323.1:p.Ile642Leu
ENST00000583694.2:c.1669A>C	ENSP00000462623.2:p.Ile557Leu
ENST00000682739.1:c.1390A>C	ENSP00000507616.1:p.Ile464Leu
ENST00000683182.1:c.481A>C	ENSP00000507831.1:p.Ile161Leu
ENST00000683515.1:n.1176A>C
ENST00000684033.1:n.467A>C
ENST00000525053.6:c.1669A>C	ENSP00000433666.2:p.Ile557Leu
ENST00000531134.6:c.1924A>C	ENSP00000431323.1:p.Ile642Leu
ENST00000534526.7:c.2080A>C MANE Select	ENSP00000449273.1:p.Ile694Leu
ENST00000395740.5:c.*1061A>C	ENSP00000379089.1:n.*1061A>C
ENST00000427716.6:c.1669A>C	ENSP00000394487.2:p.Ile557Leu
ENST00000493087.5:c.*1080A>C	ENSP00000437109.1:n.*1080A>C
ENST00000494977.1:c.1351A>C
ENST00000525053.5:c.2005A>C	ENSP00000433666.1:p.Ile669Leu
ENST00000531134.5:c.1924A>C	ENSP00000431323.1:p.Ile642Leu
ENST00000534526.6:c.2080A>C	ENSP00000449273.1:p.Ile694Leu
ENST00000546442.5:c.1390A>C	ENSP00000446695.1:p.Ile464Leu
ENST00000551984.5:c.*1038A>C	ENSP00000449614.1:n.*1038A>C
NM_001304480.1:c.2005A>C	NP_001291409.1:p.Ile669Leu
NM_001304481.1:c.1924A>C	NP_001291410.1:p.Ile642Leu
NM_001304483.1:c.925A>C	NP_001291412.1:p.Ile309Leu
NM_001304484.1:c.637A>C	NP_001291413.1:p.Ile213Leu
NM_139241.3:c.1669A>C	NP_640334.2:p.Ile557Leu
XM_005253304.3:c.2161A>C	XP_005253361.1:p.Ile721Leu
XM_005253307.2:c.1390A>C	XP_005253364.1:p.Ile464Leu
XM_005253308.3:c.1390A>C	XP_005253365.1:p.Ile464Leu
XM_005253309.1:c.1390A>C	XP_005253366.1:p.Ile464Leu
XM_005253310.3:c.925A>C	XP_005253367.1:p.Ile309Leu
XM_011520554.1:c.1963A>C	XP_011518856.1:p.Ile655Leu
XM_011520555.1:c.1669A>C	XP_011518857.1:p.Ile557Leu
XM_011520556.1:c.1669A>C	XP_011518858.1:p.Ile557Leu
XM_011520557.1:c.1117A>C	XP_011518859.1:p.Ile373Leu
XM_011520558.1:c.1072A>C	XP_011518860.1:p.Ile358Leu
XM_011520559.1:c.904A>C	XP_011518861.1:p.Ile302Leu
NM_001330373.1:c.1390A>C	NP_001317302.1:p.Ile464Leu
NM_001330374.1:c.1390A>C	NP_001317303.1:p.Ile464Leu
XM_005253304.4:c.2161A>C	XP_005253361.1:p.Ile721Leu
XM_005253308.5:c.1390A>C	XP_005253365.1:p.Ile464Leu
XM_005253310.4:c.925A>C	XP_005253367.1:p.Ile309Leu
XM_011520558.2:c.1072A>C	XP_011518860.1:p.Ile358Leu
XM_011520559.3:c.904A>C	XP_011518861.1:p.Ile302Leu
XM_017018803.1:c.2161A>C	XP_016874292.1:p.Ile721Leu
XM_017018805.1:c.1117A>C	XP_016874294.1:p.Ile373Leu
XM_024448837.1:c.1390A>C	XP_024304605.1:p.Ile464Leu
XM_024448838.1:c.1390A>C	XP_024304606.1:p.Ile464Leu
XM_024448839.1:c.1390A>C	XP_024304607.1:p.Ile464Leu
XM_024448840.1:c.778A>C	XP_024304608.1:p.Ile260Leu
NM_001370297.1:c.1117A>C	NP_001357226.1:p.Ile373Leu
NM_001370298.1:c.2161A>C	NP_001357227.1:p.Ile721Leu
NM_001304483.2:c.925A>C	NP_001291412.1:p.Ile309Leu
NM_001304484.2:c.637A>C	NP_001291413.1:p.Ile213Leu
NM_001330373.2:c.1390A>C	NP_001317302.1:p.Ile464Leu
NM_001330374.2:c.1390A>C	NP_001317303.1:p.Ile464Leu
NM_001370298.3:c.2080A>C MANE Select	NP_001357227.2:p.Ile694Leu
NM_001384126.1:c.2080A>C	NP_001371055.1:p.Ile694Leu
NM_001384127.1:c.1669A>C	NP_001371056.1:p.Ile557Leu
NM_001384128.1:c.1669A>C	NP_001371057.1:p.Ile557Leu
NM_001384130.1:c.1390A>C	NP_001371059.1:p.Ile464Leu
NM_001385118.1:c.1669A>C	NP_001372047.1:p.Ile557Leu