Canonical Allele Identifier: CA410559148

Gene: FTCD

Linked Data

• gnomAD v4: 21-46138601-C-A
• MyVariant Identifiers: chr21:g.47558515C>A (hg19) ; chr21:g.46138601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138601C>A , CM000683.2:g.46138601C>A	GRCh38
NC_000021.8:g.47558515C>A , CM000683.1:g.47558515C>A	GRCh37
NC_000021.7:g.46382943C>A	NCBI36
NG_016191.1:g.21967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-115G>T	ENSP00000507070.1:n.-115G>T
ENST00000494498.2:c.84G>T	ENSP00000507847.1:p.Val28=
ENST00000397746.8:c.1350G>T MANE Select	ENSP00000380854.3:p.Val450=
ENST00000291670.9:c.1350G>T	ENSP00000291670.5:p.Val450=
ENST00000397743.1:c.1306G>T	ENSP00000380851.1:p.Ala436Ser
ENST00000397746.7:c.1350G>T	ENSP00000380854.3:p.Val450=
ENST00000397748.5:c.1350G>T	ENSP00000380856.1:p.Val450=
ENST00000460011.5:n.679G>T
ENST00000488577.1:n.376G>T
ENST00000494498.1:n.651G>T
ENST00000498355.6:n.1419G>T
NM_006657.2:c.1350G>T	NP_006648.1:p.Val450=
NM_206965.1:c.1350G>T	NP_996848.1:p.Val450=
XM_006723961.2:c.1599G>T	XP_006724024.2:p.Val533=
XM_006723962.2:c.1599G>T	XP_006724025.2:p.Val533=
XM_011529434.1:c.1599G>T	XP_011527736.1:p.Val533=
XM_011529435.1:c.1470G>T	XP_011527737.1:p.Val490=
XM_011529436.1:c.1599G>T	XP_011527738.1:p.Val533=
XM_011529437.1:c.1599G>T	XP_011527739.1:p.Val533=
XM_011529438.1:c.1470G>T	XP_011527740.1:p.Val490=
XM_011529439.1:c.1086G>T	XP_011527741.1:p.Val362=
XR_937433.1:n.1782G>T
NM_001320412.1:c.1350G>T	NP_001307341.1:p.Val450=
XM_006723961.4:c.1599G>T	XP_006724024.2:p.Val533=
XM_006723962.4:c.1599G>T	XP_006724025.2:p.Val533=
XM_011529434.3:c.1599G>T	XP_011527736.1:p.Val533=
XM_011529435.3:c.1470G>T	XP_011527737.1:p.Val490=
XM_011529436.3:c.1599G>T	XP_011527738.1:p.Val533=
XM_011529437.3:c.1599G>T	XP_011527739.1:p.Val533=
XM_011529439.2:c.1086G>T	XP_011527741.1:p.Val362=
XR_937433.3:n.1816G>T
NM_206965.2:c.1350G>T MANE Select	NP_996848.1:p.Val450=
NM_001320412.2:c.1350G>T	NP_001307341.1:p.Val450=
NM_006657.3:c.1350G>T	NP_006648.1:p.Val450=