Canonical Allele Identifier: CA250345
Gene: FTCD HGNC NCBI

Linked Data

ClinVar Variation Id: 209155
dbSNP Id: rs200283734

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46138593G>A , CM000683.2:g.46138593G>A GRCh38
NC_000021.8:g.47558507G>A , CM000683.1:g.47558507G>A GRCh37
NC_000021.7:g.46382935G>A NCBI36
NG_016191.1:g.21975C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000460011.6:c.-107C>T ENSP00000507070.1:n.-107C>T
ENST00000494498.2:c.92C>T ENSP00000507847.1:p.Thr31Met
ENST00000397746.8:c.1358C>T MANE Select ENSP00000380854.3:p.Thr453Met
ENST00000291670.9:c.1358C>T ENSP00000291670.5:p.Thr453Met
ENST00000397743.1:c.1314C>T ENSP00000380851.1:p.Asp438=
ENST00000397746.7:c.1358C>T ENSP00000380854.3:p.Thr453Met
ENST00000397748.5:c.1358C>T ENSP00000380856.1:p.Thr453Met
ENST00000460011.5:n.687C>T
ENST00000488577.1:n.384C>T
ENST00000494498.1:n.659C>T
ENST00000498355.6:n.1427C>T
NM_006657.2:c.1358C>T NP_006648.1:p.Thr453Met
NM_206965.1:c.1358C>T NP_996848.1:p.Thr453Met
XM_006723961.2:c.1607C>T XP_006724024.2:p.Thr536Met
XM_006723962.2:c.1607C>T XP_006724025.2:p.Thr536Met
XM_011529434.1:c.1607C>T XP_011527736.1:p.Thr536Met
XM_011529435.1:c.1478C>T XP_011527737.1:p.Thr493Met
XM_011529436.1:c.1607C>T XP_011527738.1:p.Thr536Met
XM_011529437.1:c.1607C>T XP_011527739.1:p.Thr536Met
XM_011529438.1:c.1478C>T XP_011527740.1:p.Thr493Met
XM_011529439.1:c.1094C>T XP_011527741.1:p.Thr365Met
XR_937433.1:n.1790C>T
NM_001320412.1:c.1358C>T NP_001307341.1:p.Thr453Met
XM_006723961.4:c.1607C>T XP_006724024.2:p.Thr536Met
XM_006723962.4:c.1607C>T XP_006724025.2:p.Thr536Met
XM_011529434.3:c.1607C>T XP_011527736.1:p.Thr536Met
XM_011529435.3:c.1478C>T XP_011527737.1:p.Thr493Met
XM_011529436.3:c.1607C>T XP_011527738.1:p.Thr536Met
XM_011529437.3:c.1607C>T XP_011527739.1:p.Thr536Met
XM_011529439.2:c.1094C>T XP_011527741.1:p.Thr365Met
XR_937433.3:n.1824C>T
NM_206965.2:c.1358C>T MANE Select NP_996848.1:p.Thr453Met
NM_001320412.2:c.1358C>T NP_001307341.1:p.Thr453Met
NM_006657.3:c.1358C>T NP_006648.1:p.Thr453Met