Canonical Allele Identifier: CA410558912

Gene: FTCD

Linked Data

• gnomAD v4: 21-46138565-C-T
• MyVariant Identifiers: chr21:g.47558479C>T (hg19) ; chr21:g.46138565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138565C>T , CM000683.2:g.46138565C>T	GRCh38
NC_000021.8:g.47558479C>T , CM000683.1:g.47558479C>T	GRCh37
NC_000021.7:g.46382907C>T	NCBI36
NG_016191.1:g.22003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-79G>A	ENSP00000507070.1:n.-79G>A
ENST00000494498.2:c.120G>A	ENSP00000507847.1:p.Trp40Ter
ENST00000397746.8:c.1386G>A MANE Select	ENSP00000380854.3:p.Trp462Ter
ENST00000291670.9:c.1386G>A	ENSP00000291670.5:p.Trp462Ter
ENST00000397743.1:c.1342G>A	ENSP00000380851.1:p.Ala448Thr
ENST00000397746.7:c.1386G>A	ENSP00000380854.3:p.Trp462Ter
ENST00000397748.5:c.1386G>A	ENSP00000380856.1:p.Trp462Ter
ENST00000446405.5:c.8G>A
ENST00000460011.5:n.715G>A
ENST00000488577.1:n.412G>A
ENST00000494498.1:n.687G>A
ENST00000498355.6:n.1455G>A
NM_006657.2:c.1386G>A	NP_006648.1:p.Trp462Ter
NM_206965.1:c.1386G>A	NP_996848.1:p.Trp462Ter
XM_006723961.2:c.1635G>A	XP_006724024.2:p.Trp545Ter
XM_006723962.2:c.1635G>A	XP_006724025.2:p.Trp545Ter
XM_011529434.1:c.1635G>A	XP_011527736.1:p.Trp545Ter
XM_011529435.1:c.1506G>A	XP_011527737.1:p.Trp502Ter
XM_011529436.1:c.1635G>A	XP_011527738.1:p.Trp545Ter
XM_011529437.1:c.1635G>A	XP_011527739.1:p.Trp545Ter
XM_011529438.1:c.1506G>A	XP_011527740.1:p.Trp502Ter
XM_011529439.1:c.1122G>A	XP_011527741.1:p.Trp374Ter
XR_937433.1:n.1818G>A
NM_001320412.1:c.1386G>A	NP_001307341.1:p.Trp462Ter
XM_006723961.4:c.1635G>A	XP_006724024.2:p.Trp545Ter
XM_006723962.4:c.1635G>A	XP_006724025.2:p.Trp545Ter
XM_011529434.3:c.1635G>A	XP_011527736.1:p.Trp545Ter
XM_011529435.3:c.1506G>A	XP_011527737.1:p.Trp502Ter
XM_011529436.3:c.1635G>A	XP_011527738.1:p.Trp545Ter
XM_011529437.3:c.1635G>A	XP_011527739.1:p.Trp545Ter
XM_011529439.2:c.1122G>A	XP_011527741.1:p.Trp374Ter
XR_937433.3:n.1852G>A
NM_206965.2:c.1386G>A MANE Select	NP_996848.1:p.Trp462Ter
NM_001320412.2:c.1386G>A	NP_001307341.1:p.Trp462Ter
NM_006657.3:c.1386G>A	NP_006648.1:p.Trp462Ter