Canonical Allele Identifier: CA410558478
Gene: FTCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46138513G>T , CM000683.2:g.46138513G>T GRCh38
NC_000021.8:g.47558427G>T , CM000683.1:g.47558427G>T GRCh37
NC_000021.7:g.46382855G>T NCBI36
NG_016191.1:g.22055C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460011.6:c.-27C>A ENSP00000507070.1:n.-27C>A
ENST00000494498.2:c.172C>A ENSP00000507847.1:p.Leu58Ile
ENST00000397746.8:c.1438C>A MANE Select ENSP00000380854.3:p.Leu480Ile
ENST00000291670.9:c.1438C>A ENSP00000291670.5:p.Leu480Ile
ENST00000397743.1:c.1394C>A ENSP00000380851.1:p.Pro465His
ENST00000397746.7:c.1438C>A ENSP00000380854.3:p.Leu480Ile
ENST00000397748.5:c.1438C>A ENSP00000380856.1:p.Leu480Ile
ENST00000446405.5:c.60C>A
ENST00000460011.5:n.767C>A
ENST00000494498.1:n.739C>A
ENST00000498355.6:n.1507C>A
NM_006657.2:c.1438C>A NP_006648.1:p.Leu480Ile
NM_206965.1:c.1438C>A NP_996848.1:p.Leu480Ile
XM_006723961.2:c.1687C>A XP_006724024.2:p.Leu563Ile
XM_006723962.2:c.1687C>A XP_006724025.2:p.Leu563Ile
XM_011529434.1:c.1687C>A XP_011527736.1:p.Leu563Ile
XM_011529435.1:c.1558C>A XP_011527737.1:p.Leu520Ile
XM_011529436.1:c.1687C>A XP_011527738.1:p.Leu563Ile
XM_011529437.1:c.1687C>A XP_011527739.1:p.Leu563Ile
XM_011529438.1:c.1558C>A XP_011527740.1:p.Leu520Ile
XM_011529439.1:c.1174C>A XP_011527741.1:p.Leu392Ile
XR_937433.1:n.1870C>A
NM_001320412.1:c.1438C>A NP_001307341.1:p.Leu480Ile
XM_006723961.4:c.1687C>A XP_006724024.2:p.Leu563Ile
XM_006723962.4:c.1687C>A XP_006724025.2:p.Leu563Ile
XM_011529434.3:c.1687C>A XP_011527736.1:p.Leu563Ile
XM_011529435.3:c.1558C>A XP_011527737.1:p.Leu520Ile
XM_011529436.3:c.1687C>A XP_011527738.1:p.Leu563Ile
XM_011529437.3:c.1687C>A XP_011527739.1:p.Leu563Ile
XM_011529439.2:c.1174C>A XP_011527741.1:p.Leu392Ile
XR_937433.3:n.1904C>A
NM_206965.2:c.1438C>A MANE Select NP_996848.1:p.Leu480Ile
NM_001320412.2:c.1438C>A NP_001307341.1:p.Leu480Ile
NM_006657.3:c.1438C>A NP_006648.1:p.Leu480Ile