Canonical Allele Identifier: CA410559191

Gene: FTCD

Linked Data

• gnomAD v4: 21-46138605-G-T
• MyVariant Identifiers: chr21:g.47558519G>T (hg19) ; chr21:g.46138605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138605G>T , CM000683.2:g.46138605G>T	GRCh38
NC_000021.8:g.47558519G>T , CM000683.1:g.47558519G>T	GRCh37
NC_000021.7:g.46382947G>T	NCBI36
NG_016191.1:g.21963C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-119C>A	ENSP00000507070.1:n.-119C>A
ENST00000494498.2:c.80C>A	ENSP00000507847.1:p.Ser27Tyr
ENST00000397746.8:c.1346C>A MANE Select	ENSP00000380854.3:p.Ser449Tyr
ENST00000291670.9:c.1346C>A	ENSP00000291670.5:p.Ser449Tyr
ENST00000397743.1:c.1302C>A	ENSP00000380851.1:p.Leu434=
ENST00000397746.7:c.1346C>A	ENSP00000380854.3:p.Ser449Tyr
ENST00000397748.5:c.1346C>A	ENSP00000380856.1:p.Ser449Tyr
ENST00000460011.5:n.675C>A
ENST00000488577.1:n.372C>A
ENST00000494498.1:n.647C>A
ENST00000498355.6:n.1415C>A
NM_006657.2:c.1346C>A	NP_006648.1:p.Ser449Tyr
NM_206965.1:c.1346C>A	NP_996848.1:p.Ser449Tyr
XM_006723961.2:c.1595C>A	XP_006724024.2:p.Ser532Tyr
XM_006723962.2:c.1595C>A	XP_006724025.2:p.Ser532Tyr
XM_011529434.1:c.1595C>A	XP_011527736.1:p.Ser532Tyr
XM_011529435.1:c.1466C>A	XP_011527737.1:p.Ser489Tyr
XM_011529436.1:c.1595C>A	XP_011527738.1:p.Ser532Tyr
XM_011529437.1:c.1595C>A	XP_011527739.1:p.Ser532Tyr
XM_011529438.1:c.1466C>A	XP_011527740.1:p.Ser489Tyr
XM_011529439.1:c.1082C>A	XP_011527741.1:p.Ser361Tyr
XR_937433.1:n.1778C>A
NM_001320412.1:c.1346C>A	NP_001307341.1:p.Ser449Tyr
XM_006723961.4:c.1595C>A	XP_006724024.2:p.Ser532Tyr
XM_006723962.4:c.1595C>A	XP_006724025.2:p.Ser532Tyr
XM_011529434.3:c.1595C>A	XP_011527736.1:p.Ser532Tyr
XM_011529435.3:c.1466C>A	XP_011527737.1:p.Ser489Tyr
XM_011529436.3:c.1595C>A	XP_011527738.1:p.Ser532Tyr
XM_011529437.3:c.1595C>A	XP_011527739.1:p.Ser532Tyr
XM_011529439.2:c.1082C>A	XP_011527741.1:p.Ser361Tyr
XR_937433.3:n.1812C>A
NM_206965.2:c.1346C>A MANE Select	NP_996848.1:p.Ser449Tyr
NM_001320412.2:c.1346C>A	NP_001307341.1:p.Ser449Tyr
NM_006657.3:c.1346C>A	NP_006648.1:p.Ser449Tyr