Canonical Allele Identifier: CA410559375

Gene: FTCD

Linked Data

• gnomAD v4: 21-46138625-C-T
• MyVariant Identifiers: chr21:g.47558539C>T (hg19) ; chr21:g.46138625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138625C>T , CM000683.2:g.46138625C>T	GRCh38
NC_000021.8:g.47558539C>T , CM000683.1:g.47558539C>T	GRCh37
NC_000021.7:g.46382967C>T	NCBI36
NG_016191.1:g.21943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-139G>A	ENSP00000507070.1:n.-139G>A
ENST00000494498.2:c.60G>A	ENSP00000507847.1:p.Glu20=
ENST00000397746.8:c.1326G>A MANE Select	ENSP00000380854.3:p.Glu442=
ENST00000291670.9:c.1326G>A	ENSP00000291670.5:p.Glu442=
ENST00000397743.1:c.1282G>A	ENSP00000380851.1:p.Gly428Arg
ENST00000397746.7:c.1326G>A	ENSP00000380854.3:p.Glu442=
ENST00000397748.5:c.1326G>A	ENSP00000380856.1:p.Glu442=
ENST00000460011.5:n.655G>A
ENST00000488577.1:n.352G>A
ENST00000494498.1:n.627G>A
ENST00000498355.6:n.1395G>A
NM_006657.2:c.1326G>A	NP_006648.1:p.Glu442=
NM_206965.1:c.1326G>A	NP_996848.1:p.Glu442=
XM_006723961.2:c.1575G>A	XP_006724024.2:p.Glu525=
XM_006723962.2:c.1575G>A	XP_006724025.2:p.Glu525=
XM_011529434.1:c.1575G>A	XP_011527736.1:p.Glu525=
XM_011529435.1:c.1446G>A	XP_011527737.1:p.Glu482=
XM_011529436.1:c.1575G>A	XP_011527738.1:p.Glu525=
XM_011529437.1:c.1575G>A	XP_011527739.1:p.Glu525=
XM_011529438.1:c.1446G>A	XP_011527740.1:p.Glu482=
XM_011529439.1:c.1062G>A	XP_011527741.1:p.Glu354=
XR_937433.1:n.1758G>A
NM_001320412.1:c.1326G>A	NP_001307341.1:p.Glu442=
XM_006723961.4:c.1575G>A	XP_006724024.2:p.Glu525=
XM_006723962.4:c.1575G>A	XP_006724025.2:p.Glu525=
XM_011529434.3:c.1575G>A	XP_011527736.1:p.Glu525=
XM_011529435.3:c.1446G>A	XP_011527737.1:p.Glu482=
XM_011529436.3:c.1575G>A	XP_011527738.1:p.Glu525=
XM_011529437.3:c.1575G>A	XP_011527739.1:p.Glu525=
XM_011529439.2:c.1062G>A	XP_011527741.1:p.Glu354=
XR_937433.3:n.1792G>A
NM_206965.2:c.1326G>A MANE Select	NP_996848.1:p.Glu442=
NM_001320412.2:c.1326G>A	NP_001307341.1:p.Glu442=
NM_006657.3:c.1326G>A	NP_006648.1:p.Glu442=