Canonical Allele Identifier: CA6506632

Gene: FGD4

Linked Data

• ClinVar Variation Id: 1554268
• ClinVar RCV Id: RCV002199591
• dbSNP Id: rs529268397
• ExAC: 12:32735221 A / C
• gnomAD v2: 12-32735221-A-C
• gnomAD v3: 12-32582287-A-C
• gnomAD v4: 12-32582287-A-C
• MyVariant Identifiers: chr12:g.32735221A>C (hg19) ; chr12:g.32582287A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32582287A>C , CM000674.2:g.32582287A>C	GRCh38
NC_000012.11:g.32735221A>C , CM000674.1:g.32735221A>C	GRCh37
NC_000012.10:g.32626488A>C	NCBI36
NG_008626.2:g.187759A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000427716.7:c.420A>C	ENSP00000394487.2:p.Ala140=
ENST00000531134.7:c.675A>C	ENSP00000431323.1:p.Ala225=
ENST00000583694.2:c.420A>C	ENSP00000462623.2:p.Ala140=
ENST00000682739.1:c.141A>C	ENSP00000507616.1:p.Ala47=
ENST00000683182.1:c.-449-16210A>C	ENSP00000507831.1:n.-449-16210A>C
ENST00000525053.6:c.420A>C	ENSP00000433666.2:p.Ala140=
ENST00000531134.6:c.675A>C	ENSP00000431323.1:p.Ala225=
ENST00000534526.7:c.831A>C MANE Select	ENSP00000449273.1:p.Ala277=
ENST00000395740.5:c.420A>C	ENSP00000379089.1:p.Ala140=
ENST00000427716.6:c.420A>C	ENSP00000394487.2:p.Ala140=
ENST00000472289.5:c.420A>C	ENSP00000434356.1:p.Ala140=
ENST00000493087.5:c.420A>C	ENSP00000437109.1:p.Ala140=
ENST00000494275.5:n.771A>C
ENST00000525053.5:c.756A>C	ENSP00000433666.1:p.Ala252=
ENST00000531134.5:c.675A>C	ENSP00000431323.1:p.Ala225=
ENST00000534526.6:c.831A>C	ENSP00000449273.1:p.Ala277=
ENST00000546442.5:c.141A>C	ENSP00000446695.1:p.Ala47=
ENST00000551984.5:c.92+5838A>C	ENSP00000449614.1:n.92+5838A>C
NM_001304480.1:c.756A>C	NP_001291409.1:p.Ala252=
NM_001304481.1:c.675A>C	NP_001291410.1:p.Ala225=
NM_001304483.1:c.-425A>C	NP_001291412.1:n.-425A>C
NM_001304484.1:c.-732A>C	NP_001291413.1:n.-732A>C
NM_139241.3:c.420A>C	NP_640334.2:p.Ala140=
XM_005253304.3:c.912A>C	XP_005253361.1:p.Ala304=
XM_005253307.2:c.141A>C	XP_005253364.1:p.Ala47=
XM_005253308.3:c.141A>C	XP_005253365.1:p.Ala47=
XM_005253309.1:c.141A>C	XP_005253366.1:p.Ala47=
XM_011520554.1:c.714A>C	XP_011518856.1:p.Ala238=
XM_011520555.1:c.420A>C	XP_011518857.1:p.Ala140=
XM_011520556.1:c.420A>C	XP_011518858.1:p.Ala140=
XM_011520557.1:c.49-16210A>C	XP_011518859.1:n.49-16210A>C
NM_001330373.1:c.141A>C	NP_001317302.1:p.Ala47=
NM_001330374.1:c.141A>C	NP_001317303.1:p.Ala47=
XM_005253304.4:c.912A>C	XP_005253361.1:p.Ala304=
XM_005253308.5:c.141A>C	XP_005253365.1:p.Ala47=
XM_005253310.4:c.-425A>C	XP_005253367.1:n.-425A>C
XM_017018803.1:c.912A>C	XP_016874292.1:p.Ala304=
XM_017018805.1:c.49-16210A>C	XP_016874294.1:n.49-16210A>C
XM_024448837.1:c.141A>C	XP_024304605.1:p.Ala47=
XM_024448838.1:c.141A>C	XP_024304606.1:p.Ala47=
XM_024448839.1:c.141A>C	XP_024304607.1:p.Ala47=
XM_024448840.1:c.-202-16210A>C	XP_024304608.1:n.-202-16210A>C
XR_001748576.1:n.1102A>C
NM_001370297.1:c.49-16210A>C	NP_001357226.1:n.49-16210A>C
NM_001370298.1:c.912A>C	NP_001357227.1:p.Ala304=
NM_001304483.2:c.-425A>C	NP_001291412.1:n.-425A>C
NM_001304484.2:c.-732A>C	NP_001291413.1:n.-732A>C
NM_001330373.2:c.141A>C	NP_001317302.1:p.Ala47=
NM_001330374.2:c.141A>C	NP_001317303.1:p.Ala47=
NM_001370298.3:c.831A>C MANE Select	NP_001357227.2:p.Ala277=
NM_001384126.1:c.831A>C	NP_001371055.1:p.Ala277=
NM_001384127.1:c.420A>C	NP_001371056.1:p.Ala140=
NM_001384128.1:c.420A>C	NP_001371057.1:p.Ala140=
NM_001384130.1:c.141A>C	NP_001371059.1:p.Ala47=
NM_001384131.1:c.420A>C	NP_001371060.1:p.Ala140=
NM_001384132.1:c.420A>C	NP_001371061.1:p.Ala140=
NM_001385118.1:c.420A>C	NP_001372047.1:p.Ala140=
NR_168884.1:n.657A>C