Canonical Allele Identifier: CA384354760

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32717079A>T (hg19) ; chr12:g.32564145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32564145A>T , CM000674.2:g.32564145A>T	GRCh38
NC_000012.11:g.32717079A>T , CM000674.1:g.32717079A>T	GRCh37
NC_000012.10:g.32608346A>T	NCBI36
NG_008626.2:g.169617A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.-237A>T	ENSP00000394487.2:n.-237A>T
ENST00000531134.7:c.19A>T	ENSP00000431323.1:p.Thr7Ser
ENST00000583694.2:c.-237A>T	ENSP00000462623.2:n.-237A>T
ENST00000682739.1:c.-1009A>T	ENSP00000507616.1:n.-1009A>T
ENST00000683182.1:c.-594A>T	ENSP00000507831.1:n.-594A>T
ENST00000525053.6:c.-237A>T	ENSP00000433666.2:n.-237A>T
ENST00000531134.6:c.19A>T	ENSP00000431323.1:p.Thr7Ser
ENST00000534526.7:c.175A>T MANE Select	ENSP00000449273.1:p.Thr59Ser
ENST00000395740.5:c.-237A>T	ENSP00000379089.1:n.-237A>T
ENST00000427716.6:c.-237A>T	ENSP00000394487.2:n.-237A>T
ENST00000472289.5:c.-237A>T	ENSP00000434356.1:n.-237A>T
ENST00000473513.5:n.187A>T
ENST00000479023.5:n.312A>T
ENST00000493087.5:c.-237A>T	ENSP00000437109.1:n.-237A>T
ENST00000494275.5:n.299A>T
ENST00000497153.5:n.217A>T
ENST00000525053.5:c.100A>T	ENSP00000433666.1:p.Thr34Ser
ENST00000531134.5:c.19A>T	ENSP00000431323.1:p.Thr7Ser
ENST00000534526.6:c.175A>T	ENSP00000449273.1:p.Thr59Ser
ENST00000546442.5:c.-332A>T	ENSP00000446695.1:n.-332A>T
ENST00000550091.5:n.113A>T
ENST00000551984.5:c.-237A>T	ENSP00000449614.1:n.-237A>T
ENST00000583694.1:c.-237A>T	ENSP00000462623.1:n.-237A>T
NM_001304480.1:c.100A>T	NP_001291409.1:p.Thr34Ser
NM_001304481.1:c.19A>T	NP_001291410.1:p.Thr7Ser
NM_001304483.1:c.-1081A>T	NP_001291412.1:n.-1081A>T
NM_001304484.1:c.-1388A>T	NP_001291413.1:n.-1388A>T
NM_139241.3:c.-237A>T	NP_640334.2:n.-237A>T
XM_005253304.3:c.256A>T	XP_005253361.1:p.Thr86Ser
XM_005253307.2:c.-332A>T	XP_005253364.1:n.-332A>T
XM_005253308.3:c.-332A>T	XP_005253365.1:n.-332A>T
XM_005253309.1:c.-332A>T	XP_005253366.1:n.-332A>T
XM_011520554.1:c.58A>T	XP_011518856.1:p.Thr20Ser
XM_011520555.1:c.-237A>T	XP_011518857.1:n.-237A>T
XM_011520556.1:c.-380A>T	XP_011518858.1:n.-380A>T
XM_011520557.1:c.-97A>T	XP_011518859.1:n.-97A>T
NM_001330373.1:c.-332A>T	NP_001317302.1:n.-332A>T
NM_001330374.1:c.-332A>T	NP_001317303.1:n.-332A>T
XM_005253304.4:c.256A>T	XP_005253361.1:p.Thr86Ser
XM_005253308.5:c.-332A>T	XP_005253365.1:n.-332A>T
XM_017018803.1:c.256A>T	XP_016874292.1:p.Thr86Ser
XM_017018805.1:c.-97A>T	XP_016874294.1:n.-97A>T
XM_024448837.1:c.-866A>T	XP_024304605.1:n.-866A>T
XM_024448838.1:c.-665A>T	XP_024304606.1:n.-665A>T
XM_024448839.1:c.-1009A>T	XP_024304607.1:n.-1009A>T
XM_024448840.1:c.-347A>T	XP_024304608.1:n.-347A>T
XR_001748576.1:n.446A>T
NM_001370297.1:c.-97A>T	NP_001357226.1:n.-97A>T
NM_001370298.1:c.256A>T	NP_001357227.1:p.Thr86Ser
NM_001304483.2:c.-1081A>T	NP_001291412.1:n.-1081A>T
NM_001304484.2:c.-1388A>T	NP_001291413.1:n.-1388A>T
NM_001330373.2:c.-332A>T	NP_001317302.1:n.-332A>T
NM_001330374.2:c.-332A>T	NP_001317303.1:n.-332A>T
NM_001370298.3:c.175A>T MANE Select	NP_001357227.2:p.Thr59Ser
NM_001384126.1:c.175A>T	NP_001371055.1:p.Thr59Ser
NM_001384127.1:c.-237A>T	NP_001371056.1:n.-237A>T
NM_001384128.1:c.-237A>T	NP_001371057.1:n.-237A>T
NM_001384130.1:c.-332A>T	NP_001371059.1:n.-332A>T
NM_001384131.1:c.-237A>T	NP_001371060.1:n.-237A>T
NM_001384132.1:c.-237A>T	NP_001371061.1:n.-237A>T
NM_001385118.1:c.-237A>T	NP_001372047.1:n.-237A>T
NR_168884.1:n.185A>T