Canonical Allele Identifier: CA410558533

Gene: FTCD

Linked Data

• dbSNP Id: rs1426261095
• gnomAD v2: 21-47558434-C-T
• gnomAD v4: 21-46138520-C-T
• MyVariant Identifiers: chr21:g.47558434C>T (hg19) ; chr21:g.46138520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138520C>T , CM000683.2:g.46138520C>T	GRCh38
NC_000021.8:g.47558434C>T , CM000683.1:g.47558434C>T	GRCh37
NC_000021.7:g.46382862C>T	NCBI36
NG_016191.1:g.22048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-34G>A	ENSP00000507070.1:n.-34G>A
ENST00000494498.2:c.165G>A	ENSP00000507847.1:p.Arg55=
ENST00000397746.8:c.1431G>A MANE Select	ENSP00000380854.3:p.Arg477=
ENST00000291670.9:c.1431G>A	ENSP00000291670.5:p.Arg477=
ENST00000397743.1:c.1387G>A	ENSP00000380851.1:p.Val463Ile
ENST00000397746.7:c.1431G>A	ENSP00000380854.3:p.Arg477=
ENST00000397748.5:c.1431G>A	ENSP00000380856.1:p.Arg477=
ENST00000446405.5:c.53G>A
ENST00000460011.5:n.760G>A
ENST00000494498.1:n.732G>A
ENST00000498355.6:n.1500G>A
NM_006657.2:c.1431G>A	NP_006648.1:p.Arg477=
NM_206965.1:c.1431G>A	NP_996848.1:p.Arg477=
XM_006723961.2:c.1680G>A	XP_006724024.2:p.Arg560=
XM_006723962.2:c.1680G>A	XP_006724025.2:p.Arg560=
XM_011529434.1:c.1680G>A	XP_011527736.1:p.Arg560=
XM_011529435.1:c.1551G>A	XP_011527737.1:p.Arg517=
XM_011529436.1:c.1680G>A	XP_011527738.1:p.Arg560=
XM_011529437.1:c.1680G>A	XP_011527739.1:p.Arg560=
XM_011529438.1:c.1551G>A	XP_011527740.1:p.Arg517=
XM_011529439.1:c.1167G>A	XP_011527741.1:p.Arg389=
XR_937433.1:n.1863G>A
NM_001320412.1:c.1431G>A	NP_001307341.1:p.Arg477=
XM_006723961.4:c.1680G>A	XP_006724024.2:p.Arg560=
XM_006723962.4:c.1680G>A	XP_006724025.2:p.Arg560=
XM_011529434.3:c.1680G>A	XP_011527736.1:p.Arg560=
XM_011529435.3:c.1551G>A	XP_011527737.1:p.Arg517=
XM_011529436.3:c.1680G>A	XP_011527738.1:p.Arg560=
XM_011529437.3:c.1680G>A	XP_011527739.1:p.Arg560=
XM_011529439.2:c.1167G>A	XP_011527741.1:p.Arg389=
XR_937433.3:n.1897G>A
NM_206965.2:c.1431G>A MANE Select	NP_996848.1:p.Arg477=
NM_001320412.2:c.1431G>A	NP_001307341.1:p.Arg477=
NM_006657.3:c.1431G>A	NP_006648.1:p.Arg477=