Canonical Allele Identifier: CA6507114
Community Standard Title: NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)
Gene: FGD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32640327A>G , CM000674.2:g.32640327A>G GRCh38
NC_000012.11:g.32793261A>G , CM000674.1:g.32793261A>G GRCh37
NC_000012.10:g.32684528A>G NCBI36
NG_008626.2:g.245799A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001370298.3:c.2506A>G MANE Select NP_001357227.2:p.Met836Val
ENST00000534526.7:c.2506A>G MANE Select ENSP00000449273.1:p.Met836Val
NM_001304480.1:c.2431A>G NP_001291409.1:p.Met811Val
NM_001304481.1:c.2350A>G NP_001291410.1:p.Met784Val
NM_001304484.1:c.1063A>G NP_001291413.1:p.Met355Val
NM_001304484.2:c.1063A>G NP_001291413.1:p.Met355Val
NM_001330373.1:c.1816A>G NP_001317302.1:p.Met606Val
NM_001330373.2:c.1816A>G NP_001317302.1:p.Met606Val
NM_001330374.1:c.1816A>G NP_001317303.1:p.Met606Val
NM_001330374.2:c.1816A>G NP_001317303.1:p.Met606Val
NM_001370297.1:c.1543A>G NP_001357226.1:p.Met515Val
NM_001370298.1:c.2587A>G NP_001357227.1:p.Met863Val
NM_001384126.1:c.2506A>G NP_001371055.1:p.Met836Val
NM_001384127.1:c.2095A>G NP_001371056.1:p.Met699Val
NM_001384128.1:c.2095A>G NP_001371057.1:p.Met699Val
NM_001384130.1:c.1816A>G NP_001371059.1:p.Met606Val
NM_001385118.1:c.2095A>G NP_001372047.1:p.Met699Val
NM_139241.3:c.2095A>G NP_640334.2:p.Met699Val
ENST00000427716.6:c.2095A>G ENSP00000394487.2:p.Met699Val
ENST00000427716.7:c.2095A>G ENSP00000394487.2:p.Met699Val
ENST00000493087.5:c.*1506A>G ENSP00000437109.1:n.*1506A>G
ENST00000494977.1:c.1983A>G
ENST00000525053.5:c.2431A>G ENSP00000433666.1:p.Met811Val
ENST00000525053.6:c.2095A>G ENSP00000433666.2:p.Met699Val
ENST00000531134.5:c.2350A>G ENSP00000431323.1:p.Met784Val
ENST00000531134.6:c.2350A>G ENSP00000431323.1:p.Met784Val
ENST00000531134.7:c.2350A>G ENSP00000431323.1:p.Met784Val
ENST00000534526.6:c.2506A>G ENSP00000449273.1:p.Met836Val
ENST00000546442.5:c.1816A>G ENSP00000446695.1:p.Met606Val
ENST00000551984.5:c.*1464A>G ENSP00000449614.1:n.*1464A>G
ENST00000583694.2:c.2095A>G ENSP00000462623.2:p.Met699Val
ENST00000682739.1:c.1816A>G ENSP00000507616.1:p.Met606Val
ENST00000683182.1:c.907A>G ENSP00000507831.1:p.Met303Val
ENST00000684033.1:n.893A>G
XM_005253304.3:c.2587A>G XP_005253361.1:p.Met863Val
XM_005253304.4:c.2587A>G XP_005253361.1:p.Met863Val
XM_005253307.2:c.1816A>G XP_005253364.1:p.Met606Val
XM_005253308.3:c.1816A>G XP_005253365.1:p.Met606Val
XM_005253308.5:c.1816A>G XP_005253365.1:p.Met606Val
XM_005253309.1:c.1816A>G XP_005253366.1:p.Met606Val
XM_005253310.3:c.1351A>G XP_005253367.1:p.Met451Val
XM_005253310.4:c.1351A>G XP_005253367.1:p.Met451Val
XM_011520554.1:c.2389A>G XP_011518856.1:p.Met797Val
XM_011520555.1:c.2095A>G XP_011518857.1:p.Met699Val
XM_011520556.1:c.2095A>G XP_011518858.1:p.Met699Val
XM_011520557.1:c.1543A>G XP_011518859.1:p.Met515Val
XM_011520558.1:c.1498A>G XP_011518860.1:p.Met500Val
XM_011520558.2:c.1498A>G XP_011518860.1:p.Met500Val
XM_011520559.1:c.1330A>G XP_011518861.1:p.Met444Val
XM_011520559.3:c.1330A>G XP_011518861.1:p.Met444Val
XM_017018803.1:c.2587A>G XP_016874292.1:p.Met863Val
XM_017018805.1:c.1543A>G XP_016874294.1:p.Met515Val
XM_024448837.1:c.1816A>G XP_024304605.1:p.Met606Val
XM_024448838.1:c.1816A>G XP_024304606.1:p.Met606Val
XM_024448839.1:c.1816A>G XP_024304607.1:p.Met606Val
XM_024448840.1:c.1204A>G XP_024304608.1:p.Met402Val