Canonical Allele Identifier: CA384372300

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32793249G>C (hg19) ; chr12:g.32640315G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32640315G>C , CM000674.2:g.32640315G>C	GRCh38
NC_000012.11:g.32793249G>C , CM000674.1:g.32793249G>C	GRCh37
NC_000012.10:g.32684516G>C	NCBI36
NG_008626.2:g.245787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.2083G>C	ENSP00000394487.2:p.Val695Leu
ENST00000531134.7:c.2338G>C	ENSP00000431323.1:p.Val780Leu
ENST00000583694.2:c.2083G>C	ENSP00000462623.2:p.Val695Leu
ENST00000682739.1:c.1804G>C	ENSP00000507616.1:p.Val602Leu
ENST00000683182.1:c.895G>C	ENSP00000507831.1:p.Val299Leu
ENST00000684033.1:n.881G>C
ENST00000525053.6:c.2083G>C	ENSP00000433666.2:p.Val695Leu
ENST00000531134.6:c.2338G>C	ENSP00000431323.1:p.Val780Leu
ENST00000534526.7:c.2494G>C MANE Select	ENSP00000449273.1:p.Val832Leu
ENST00000427716.6:c.2083G>C	ENSP00000394487.2:p.Val695Leu
ENST00000493087.5:c.*1494G>C	ENSP00000437109.1:n.*1494G>C
ENST00000494977.1:c.1971G>C
ENST00000525053.5:c.2419G>C	ENSP00000433666.1:p.Val807Leu
ENST00000531134.5:c.2338G>C	ENSP00000431323.1:p.Val780Leu
ENST00000534526.6:c.2494G>C	ENSP00000449273.1:p.Val832Leu
ENST00000546442.5:c.1804G>C	ENSP00000446695.1:p.Val602Leu
ENST00000551984.5:c.*1452G>C	ENSP00000449614.1:n.*1452G>C
NM_001304480.1:c.2419G>C	NP_001291409.1:p.Val807Leu
NM_001304481.1:c.2338G>C	NP_001291410.1:p.Val780Leu
NM_001304484.1:c.1051G>C	NP_001291413.1:p.Val351Leu
NM_139241.3:c.2083G>C	NP_640334.2:p.Val695Leu
XM_005253304.3:c.2575G>C	XP_005253361.1:p.Val859Leu
XM_005253307.2:c.1804G>C	XP_005253364.1:p.Val602Leu
XM_005253308.3:c.1804G>C	XP_005253365.1:p.Val602Leu
XM_005253309.1:c.1804G>C	XP_005253366.1:p.Val602Leu
XM_005253310.3:c.1339G>C	XP_005253367.1:p.Val447Leu
XM_011520554.1:c.2377G>C	XP_011518856.1:p.Val793Leu
XM_011520555.1:c.2083G>C	XP_011518857.1:p.Val695Leu
XM_011520556.1:c.2083G>C	XP_011518858.1:p.Val695Leu
XM_011520557.1:c.1531G>C	XP_011518859.1:p.Val511Leu
XM_011520558.1:c.1486G>C	XP_011518860.1:p.Val496Leu
XM_011520559.1:c.1318G>C	XP_011518861.1:p.Val440Leu
NM_001330373.1:c.1804G>C	NP_001317302.1:p.Val602Leu
NM_001330374.1:c.1804G>C	NP_001317303.1:p.Val602Leu
XM_005253304.4:c.2575G>C	XP_005253361.1:p.Val859Leu
XM_005253308.5:c.1804G>C	XP_005253365.1:p.Val602Leu
XM_005253310.4:c.1339G>C	XP_005253367.1:p.Val447Leu
XM_011520558.2:c.1486G>C	XP_011518860.1:p.Val496Leu
XM_011520559.3:c.1318G>C	XP_011518861.1:p.Val440Leu
XM_017018803.1:c.2575G>C	XP_016874292.1:p.Val859Leu
XM_017018805.1:c.1531G>C	XP_016874294.1:p.Val511Leu
XM_024448837.1:c.1804G>C	XP_024304605.1:p.Val602Leu
XM_024448838.1:c.1804G>C	XP_024304606.1:p.Val602Leu
XM_024448839.1:c.1804G>C	XP_024304607.1:p.Val602Leu
XM_024448840.1:c.1192G>C	XP_024304608.1:p.Val398Leu
NM_001370297.1:c.1531G>C	NP_001357226.1:p.Val511Leu
NM_001370298.1:c.2575G>C	NP_001357227.1:p.Val859Leu
NM_001304484.2:c.1051G>C	NP_001291413.1:p.Val351Leu
NM_001330373.2:c.1804G>C	NP_001317302.1:p.Val602Leu
NM_001330374.2:c.1804G>C	NP_001317303.1:p.Val602Leu
NM_001370298.3:c.2494G>C MANE Select	NP_001357227.2:p.Val832Leu
NM_001384126.1:c.2494G>C	NP_001371055.1:p.Val832Leu
NM_001384127.1:c.2083G>C	NP_001371056.1:p.Val695Leu
NM_001384128.1:c.2083G>C	NP_001371057.1:p.Val695Leu
NM_001384130.1:c.1804G>C	NP_001371059.1:p.Val602Leu
NM_001385118.1:c.2083G>C	NP_001372047.1:p.Val695Leu