Canonical Allele Identifier: CA384357123

Gene: FGD4

Linked Data

• MyVariant Identifiers: chr12:g.32751474T>C (hg19) ; chr12:g.32598540T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598540T>C , CM000674.2:g.32598540T>C	GRCh38
NC_000012.11:g.32751474T>C , CM000674.1:g.32751474T>C	GRCh37
NC_000012.10:g.32642741T>C	NCBI36
NG_008626.2:g.204012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.644T>C	ENSP00000394487.2:p.Leu215Ser
ENST00000531134.7:c.899T>C	ENSP00000431323.1:p.Leu300Ser
ENST00000583694.2:c.644T>C	ENSP00000462623.2:p.Leu215Ser
ENST00000682739.1:c.365T>C	ENSP00000507616.1:p.Leu122Ser
ENST00000683182.1:c.-406T>C	ENSP00000507831.1:n.-406T>C
ENST00000683515.1:n.151T>C
ENST00000525053.6:c.644T>C	ENSP00000433666.2:p.Leu215Ser
ENST00000531134.6:c.899T>C	ENSP00000431323.1:p.Leu300Ser
ENST00000534526.7:c.1055T>C MANE Select	ENSP00000449273.1:p.Leu352Ser
ENST00000395740.5:c.644T>C	ENSP00000379089.1:p.Leu215Ser
ENST00000427716.6:c.644T>C	ENSP00000394487.2:p.Leu215Ser
ENST00000493087.5:c.644T>C	ENSP00000437109.1:p.Leu215Ser
ENST00000494977.1:c.133T>C
ENST00000525053.5:c.980T>C	ENSP00000433666.1:p.Leu327Ser
ENST00000531134.5:c.899T>C	ENSP00000431323.1:p.Leu300Ser
ENST00000534526.6:c.1055T>C	ENSP00000449273.1:p.Leu352Ser
ENST00000546442.5:c.365T>C	ENSP00000446695.1:p.Leu122Ser
ENST00000551984.5:c.*13T>C	ENSP00000449614.1:n.*13T>C
NM_001304480.1:c.980T>C	NP_001291409.1:p.Leu327Ser
NM_001304481.1:c.899T>C	NP_001291410.1:p.Leu300Ser
NM_001304483.1:c.-201T>C	NP_001291412.1:n.-201T>C
NM_001304484.1:c.-508T>C	NP_001291413.1:n.-508T>C
NM_139241.3:c.644T>C	NP_640334.2:p.Leu215Ser
XM_005253304.3:c.1136T>C	XP_005253361.1:p.Leu379Ser
XM_005253307.2:c.365T>C	XP_005253364.1:p.Leu122Ser
XM_005253308.3:c.365T>C	XP_005253365.1:p.Leu122Ser
XM_005253309.1:c.365T>C	XP_005253366.1:p.Leu122Ser
XM_011520554.1:c.938T>C	XP_011518856.1:p.Leu313Ser
XM_011520555.1:c.644T>C	XP_011518857.1:p.Leu215Ser
XM_011520556.1:c.644T>C	XP_011518858.1:p.Leu215Ser
XM_011520557.1:c.92T>C	XP_011518859.1:p.Leu31Ser
XM_011520558.1:c.47T>C	XP_011518860.1:p.Leu16Ser
NM_001330373.1:c.365T>C	NP_001317302.1:p.Leu122Ser
NM_001330374.1:c.365T>C	NP_001317303.1:p.Leu122Ser
XM_005253304.4:c.1136T>C	XP_005253361.1:p.Leu379Ser
XM_005253308.5:c.365T>C	XP_005253365.1:p.Leu122Ser
XM_005253310.4:c.-201T>C	XP_005253367.1:n.-201T>C
XM_011520558.2:c.47T>C	XP_011518860.1:p.Leu16Ser
XM_017018803.1:c.1136T>C	XP_016874292.1:p.Leu379Ser
XM_017018805.1:c.92T>C	XP_016874294.1:p.Leu31Ser
XM_024448837.1:c.365T>C	XP_024304605.1:p.Leu122Ser
XM_024448838.1:c.365T>C	XP_024304606.1:p.Leu122Ser
XM_024448839.1:c.365T>C	XP_024304607.1:p.Leu122Ser
XM_024448840.1:c.-159T>C	XP_024304608.1:n.-159T>C
XR_001748576.1:n.1326T>C
NM_001370297.1:c.92T>C	NP_001357226.1:p.Leu31Ser
NM_001370298.1:c.1136T>C	NP_001357227.1:p.Leu379Ser
NM_001304483.2:c.-201T>C	NP_001291412.1:n.-201T>C
NM_001304484.2:c.-508T>C	NP_001291413.1:n.-508T>C
NM_001330373.2:c.365T>C	NP_001317302.1:p.Leu122Ser
NM_001330374.2:c.365T>C	NP_001317303.1:p.Leu122Ser
NM_001370298.3:c.1055T>C MANE Select	NP_001357227.2:p.Leu352Ser
NM_001384126.1:c.1055T>C	NP_001371055.1:p.Leu352Ser
NM_001384127.1:c.644T>C	NP_001371056.1:p.Leu215Ser
NM_001384128.1:c.644T>C	NP_001371057.1:p.Leu215Ser
NM_001384130.1:c.365T>C	NP_001371059.1:p.Leu122Ser
NM_001385118.1:c.644T>C	NP_001372047.1:p.Leu215Ser