Canonical Allele Identifier: CA6506599

Gene: FGD4

Linked Data

• ClinVar Variation Id: 702684
• ClinVar RCV Id: RCV000871870 ; RCV001174093
• dbSNP Id: rs141920723
• ExAC: 12:32735002 C / T
• gnomAD v2: 12-32735002-C-T
• gnomAD v3: 12-32582068-C-T
• gnomAD v4: 12-32582068-C-T
• MyVariant Identifiers: chr12:g.32735002C>T (hg19) ; chr12:g.32582068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32582068C>T , CM000674.2:g.32582068C>T	GRCh38
NC_000012.11:g.32735002C>T , CM000674.1:g.32735002C>T	GRCh37
NC_000012.10:g.32626269C>T	NCBI36
NG_008626.2:g.187540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.201C>T	ENSP00000394487.2:p.Leu67=
ENST00000531134.7:c.456C>T	ENSP00000431323.1:p.Leu152=
ENST00000583694.2:c.201C>T	ENSP00000462623.2:p.Leu67=
ENST00000682739.1:c.-79C>T	ENSP00000507616.1:n.-79C>T
ENST00000683182.1:c.-449-16429C>T	ENSP00000507831.1:n.-449-16429C>T
ENST00000525053.6:c.201C>T	ENSP00000433666.2:p.Leu67=
ENST00000531134.6:c.456C>T	ENSP00000431323.1:p.Leu152=
ENST00000534526.7:c.612C>T MANE Select	ENSP00000449273.1:p.Leu204=
ENST00000395740.5:c.201C>T	ENSP00000379089.1:p.Leu67=
ENST00000427716.6:c.201C>T	ENSP00000394487.2:p.Leu67=
ENST00000472289.5:c.201C>T	ENSP00000434356.1:p.Leu67=
ENST00000493087.5:c.201C>T	ENSP00000437109.1:p.Leu67=
ENST00000494275.5:n.552C>T
ENST00000525053.5:c.537C>T	ENSP00000433666.1:p.Leu179=
ENST00000531134.5:c.456C>T	ENSP00000431323.1:p.Leu152=
ENST00000534526.6:c.612C>T	ENSP00000449273.1:p.Leu204=
ENST00000546442.5:c.-79C>T	ENSP00000446695.1:n.-79C>T
ENST00000550091.5:n.366C>T
ENST00000551984.5:c.92+5619C>T	ENSP00000449614.1:n.92+5619C>T
NM_001304480.1:c.537C>T	NP_001291409.1:p.Leu179=
NM_001304481.1:c.456C>T	NP_001291410.1:p.Leu152=
NM_001304483.1:c.-644C>T	NP_001291412.1:n.-644C>T
NM_001304484.1:c.-951C>T	NP_001291413.1:n.-951C>T
NM_139241.3:c.201C>T	NP_640334.2:p.Leu67=
XM_005253304.3:c.693C>T	XP_005253361.1:p.Leu231=
XM_005253307.2:c.-79C>T	XP_005253364.1:n.-79C>T
XM_005253308.3:c.-79C>T	XP_005253365.1:n.-79C>T
XM_005253309.1:c.-79C>T	XP_005253366.1:n.-79C>T
XM_011520554.1:c.495C>T	XP_011518856.1:p.Leu165=
XM_011520555.1:c.201C>T	XP_011518857.1:p.Leu67=
XM_011520556.1:c.201C>T	XP_011518858.1:p.Leu67=
XM_011520557.1:c.49-16429C>T	XP_011518859.1:n.49-16429C>T
NM_001330373.1:c.-79C>T	NP_001317302.1:n.-79C>T
NM_001330374.1:c.-79C>T	NP_001317303.1:n.-79C>T
XM_005253304.4:c.693C>T	XP_005253361.1:p.Leu231=
XM_005253308.5:c.-79C>T	XP_005253365.1:n.-79C>T
XM_017018803.1:c.693C>T	XP_016874292.1:p.Leu231=
XM_017018805.1:c.49-16429C>T	XP_016874294.1:n.49-16429C>T
XM_024448837.1:c.-79C>T	XP_024304605.1:n.-79C>T
XM_024448838.1:c.-79C>T	XP_024304606.1:n.-79C>T
XM_024448839.1:c.-79C>T	XP_024304607.1:n.-79C>T
XM_024448840.1:c.-202-16429C>T	XP_024304608.1:n.-202-16429C>T
XR_001748576.1:n.883C>T
NM_001370297.1:c.49-16429C>T	NP_001357226.1:n.49-16429C>T
NM_001370298.1:c.693C>T	NP_001357227.1:p.Leu231=
NM_001304483.2:c.-644C>T	NP_001291412.1:n.-644C>T
NM_001304484.2:c.-951C>T	NP_001291413.1:n.-951C>T
NM_001330373.2:c.-79C>T	NP_001317302.1:n.-79C>T
NM_001330374.2:c.-79C>T	NP_001317303.1:n.-79C>T
NM_001370298.3:c.612C>T MANE Select	NP_001357227.2:p.Leu204=
NM_001384126.1:c.612C>T	NP_001371055.1:p.Leu204=
NM_001384127.1:c.201C>T	NP_001371056.1:p.Leu67=
NM_001384128.1:c.201C>T	NP_001371057.1:p.Leu67=
NM_001384130.1:c.-79C>T	NP_001371059.1:n.-79C>T
NM_001384131.1:c.201C>T	NP_001371060.1:p.Leu67=
NM_001384132.1:c.201C>T	NP_001371061.1:p.Leu67=
NM_001385118.1:c.201C>T	NP_001372047.1:p.Leu67=
NR_168884.1:n.438C>T