Canonical Allele Identifier: CA10073449
Gene: FTCD HGNC NCBI

Linked Data

ClinVar Variation Id: 340416
dbSNP Id: rs61735839

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46138542C>T , CM000683.2:g.46138542C>T GRCh38
NC_000021.8:g.47558456C>T , CM000683.1:g.47558456C>T GRCh37
NC_000021.7:g.46382884C>T NCBI36
NG_016191.1:g.22026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460011.6:c.-56G>A ENSP00000507070.1:n.-56G>A
ENST00000494498.2:c.143G>A ENSP00000507847.1:p.Arg48Gln
ENST00000397746.8:c.1409G>A MANE Select ENSP00000380854.3:p.Arg470Gln
ENST00000291670.9:c.1409G>A ENSP00000291670.5:p.Arg470Gln
ENST00000397743.1:c.1365G>A ENSP00000380851.1:p.Pro455=
ENST00000397746.7:c.1409G>A ENSP00000380854.3:p.Arg470Gln
ENST00000397748.5:c.1409G>A ENSP00000380856.1:p.Arg470Gln
ENST00000446405.5:c.31G>A
ENST00000460011.5:n.738G>A
ENST00000488577.1:n.435G>A
ENST00000494498.1:n.710G>A
ENST00000498355.6:n.1478G>A
NM_006657.2:c.1409G>A NP_006648.1:p.Arg470Gln
NM_206965.1:c.1409G>A NP_996848.1:p.Arg470Gln
XM_006723961.2:c.1658G>A XP_006724024.2:p.Arg553Gln
XM_006723962.2:c.1658G>A XP_006724025.2:p.Arg553Gln
XM_011529434.1:c.1658G>A XP_011527736.1:p.Arg553Gln
XM_011529435.1:c.1529G>A XP_011527737.1:p.Arg510Gln
XM_011529436.1:c.1658G>A XP_011527738.1:p.Arg553Gln
XM_011529437.1:c.1658G>A XP_011527739.1:p.Arg553Gln
XM_011529438.1:c.1529G>A XP_011527740.1:p.Arg510Gln
XM_011529439.1:c.1145G>A XP_011527741.1:p.Arg382Gln
XR_937433.1:n.1841G>A
NM_001320412.1:c.1409G>A NP_001307341.1:p.Arg470Gln
XM_006723961.4:c.1658G>A XP_006724024.2:p.Arg553Gln
XM_006723962.4:c.1658G>A XP_006724025.2:p.Arg553Gln
XM_011529434.3:c.1658G>A XP_011527736.1:p.Arg553Gln
XM_011529435.3:c.1529G>A XP_011527737.1:p.Arg510Gln
XM_011529436.3:c.1658G>A XP_011527738.1:p.Arg553Gln
XM_011529437.3:c.1658G>A XP_011527739.1:p.Arg553Gln
XM_011529439.2:c.1145G>A XP_011527741.1:p.Arg382Gln
XR_937433.3:n.1875G>A
NM_206965.2:c.1409G>A MANE Select NP_996848.1:p.Arg470Gln
NM_001320412.2:c.1409G>A NP_001307341.1:p.Arg470Gln
NM_006657.3:c.1409G>A NP_006648.1:p.Arg470Gln