Canonical Allele Identifier: CA410558685
Gene: FTCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46138539C>A , CM000683.2:g.46138539C>A GRCh38
NC_000021.8:g.47558453C>A , CM000683.1:g.47558453C>A GRCh37
NC_000021.7:g.46382881C>A NCBI36
NG_016191.1:g.22029G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460011.6:c.-53G>T ENSP00000507070.1:n.-53G>T
ENST00000494498.2:c.146G>T ENSP00000507847.1:p.Cys49Phe
ENST00000397746.8:c.1412G>T MANE Select ENSP00000380854.3:p.Cys471Phe
ENST00000291670.9:c.1412G>T ENSP00000291670.5:p.Cys471Phe
ENST00000397743.1:c.1368G>T ENSP00000380851.1:p.Val456=
ENST00000397746.7:c.1412G>T ENSP00000380854.3:p.Cys471Phe
ENST00000397748.5:c.1412G>T ENSP00000380856.1:p.Cys471Phe
ENST00000446405.5:c.34G>T
ENST00000460011.5:n.741G>T
ENST00000488577.1:n.438G>T
ENST00000494498.1:n.713G>T
ENST00000498355.6:n.1481G>T
NM_006657.2:c.1412G>T NP_006648.1:p.Cys471Phe
NM_206965.1:c.1412G>T NP_996848.1:p.Cys471Phe
XM_006723961.2:c.1661G>T XP_006724024.2:p.Cys554Phe
XM_006723962.2:c.1661G>T XP_006724025.2:p.Cys554Phe
XM_011529434.1:c.1661G>T XP_011527736.1:p.Cys554Phe
XM_011529435.1:c.1532G>T XP_011527737.1:p.Cys511Phe
XM_011529436.1:c.1661G>T XP_011527738.1:p.Cys554Phe
XM_011529437.1:c.1661G>T XP_011527739.1:p.Cys554Phe
XM_011529438.1:c.1532G>T XP_011527740.1:p.Cys511Phe
XM_011529439.1:c.1148G>T XP_011527741.1:p.Cys383Phe
XR_937433.1:n.1844G>T
NM_001320412.1:c.1412G>T NP_001307341.1:p.Cys471Phe
XM_006723961.4:c.1661G>T XP_006724024.2:p.Cys554Phe
XM_006723962.4:c.1661G>T XP_006724025.2:p.Cys554Phe
XM_011529434.3:c.1661G>T XP_011527736.1:p.Cys554Phe
XM_011529435.3:c.1532G>T XP_011527737.1:p.Cys511Phe
XM_011529436.3:c.1661G>T XP_011527738.1:p.Cys554Phe
XM_011529437.3:c.1661G>T XP_011527739.1:p.Cys554Phe
XM_011529439.2:c.1148G>T XP_011527741.1:p.Cys383Phe
XR_937433.3:n.1878G>T
NM_206965.2:c.1412G>T MANE Select NP_996848.1:p.Cys471Phe
NM_001320412.2:c.1412G>T NP_001307341.1:p.Cys471Phe
NM_006657.3:c.1412G>T NP_006648.1:p.Cys471Phe