Canonical Allele Identifier: CA410559469

Gene: FTCD

Linked Data

• dbSNP Id: rs2078924875
• gnomAD v4: 21-46138635-G-A
• MyVariant Identifiers: chr21:g.47558549G>A (hg19) ; chr21:g.46138635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138635G>A , CM000683.2:g.46138635G>A	GRCh38
NC_000021.8:g.47558549G>A , CM000683.1:g.47558549G>A	GRCh37
NC_000021.7:g.46382977G>A	NCBI36
NG_016191.1:g.21933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-149C>T	ENSP00000507070.1:n.-149C>T
ENST00000494498.2:c.50C>T	ENSP00000507847.1:p.Ala17Val
ENST00000397746.8:c.1316C>T MANE Select	ENSP00000380854.3:p.Ala439Val
ENST00000291670.9:c.1316C>T	ENSP00000291670.5:p.Ala439Val
ENST00000397743.1:c.1272C>T	ENSP00000380851.1:p.Gly424=
ENST00000397746.7:c.1316C>T	ENSP00000380854.3:p.Ala439Val
ENST00000397748.5:c.1316C>T	ENSP00000380856.1:p.Ala439Val
ENST00000460011.5:n.645C>T
ENST00000488577.1:n.342C>T
ENST00000494498.1:n.617C>T
ENST00000498355.6:n.1385C>T
NM_006657.2:c.1316C>T	NP_006648.1:p.Ala439Val
NM_206965.1:c.1316C>T	NP_996848.1:p.Ala439Val
XM_006723961.2:c.1565C>T	XP_006724024.2:p.Ala522Val
XM_006723962.2:c.1565C>T	XP_006724025.2:p.Ala522Val
XM_011529434.1:c.1565C>T	XP_011527736.1:p.Ala522Val
XM_011529435.1:c.1436C>T	XP_011527737.1:p.Ala479Val
XM_011529436.1:c.1565C>T	XP_011527738.1:p.Ala522Val
XM_011529437.1:c.1565C>T	XP_011527739.1:p.Ala522Val
XM_011529438.1:c.1436C>T	XP_011527740.1:p.Ala479Val
XM_011529439.1:c.1052C>T	XP_011527741.1:p.Ala351Val
XR_937433.1:n.1748C>T
NM_001320412.1:c.1316C>T	NP_001307341.1:p.Ala439Val
XM_006723961.4:c.1565C>T	XP_006724024.2:p.Ala522Val
XM_006723962.4:c.1565C>T	XP_006724025.2:p.Ala522Val
XM_011529434.3:c.1565C>T	XP_011527736.1:p.Ala522Val
XM_011529435.3:c.1436C>T	XP_011527737.1:p.Ala479Val
XM_011529436.3:c.1565C>T	XP_011527738.1:p.Ala522Val
XM_011529437.3:c.1565C>T	XP_011527739.1:p.Ala522Val
XM_011529439.2:c.1052C>T	XP_011527741.1:p.Ala351Val
XR_937433.3:n.1782C>T
NM_206965.2:c.1316C>T MANE Select	NP_996848.1:p.Ala439Val
NM_001320412.2:c.1316C>T	NP_001307341.1:p.Ala439Val
NM_006657.3:c.1316C>T	NP_006648.1:p.Ala439Val