Canonical Allele Identifier: CA10073473

Gene: FTCD

Linked Data

• ClinVar Variation Id: 766703
• ClinVar RCV Id: RCV001468914
• dbSNP Id: rs763845321
• ExAC: 21:47558512 C / T
• gnomAD v2: 21-47558512-C-T
• gnomAD v3: 21-46138598-C-T
• gnomAD v4: 21-46138598-C-T
• MyVariant Identifiers: chr21:g.47558512C>T (hg19) ; chr21:g.46138598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138598C>T , CM000683.2:g.46138598C>T	GRCh38
NC_000021.8:g.47558512C>T , CM000683.1:g.47558512C>T	GRCh37
NC_000021.7:g.46382940C>T	NCBI36
NG_016191.1:g.21970G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000460011.6:c.-112G>A	ENSP00000507070.1:n.-112G>A
ENST00000494498.2:c.87G>A	ENSP00000507847.1:p.Pro29=
ENST00000397746.8:c.1353G>A MANE Select	ENSP00000380854.3:p.Pro451=
ENST00000291670.9:c.1353G>A	ENSP00000291670.5:p.Pro451=
ENST00000397743.1:c.1309G>A	ENSP00000380851.1:p.Ala437Thr
ENST00000397746.7:c.1353G>A	ENSP00000380854.3:p.Pro451=
ENST00000397748.5:c.1353G>A	ENSP00000380856.1:p.Pro451=
ENST00000460011.5:n.682G>A
ENST00000488577.1:n.379G>A
ENST00000494498.1:n.654G>A
ENST00000498355.6:n.1422G>A
NM_006657.2:c.1353G>A	NP_006648.1:p.Pro451=
NM_206965.1:c.1353G>A	NP_996848.1:p.Pro451=
XM_006723961.2:c.1602G>A	XP_006724024.2:p.Pro534=
XM_006723962.2:c.1602G>A	XP_006724025.2:p.Pro534=
XM_011529434.1:c.1602G>A	XP_011527736.1:p.Pro534=
XM_011529435.1:c.1473G>A	XP_011527737.1:p.Pro491=
XM_011529436.1:c.1602G>A	XP_011527738.1:p.Pro534=
XM_011529437.1:c.1602G>A	XP_011527739.1:p.Pro534=
XM_011529438.1:c.1473G>A	XP_011527740.1:p.Pro491=
XM_011529439.1:c.1089G>A	XP_011527741.1:p.Pro363=
XR_937433.1:n.1785G>A
NM_001320412.1:c.1353G>A	NP_001307341.1:p.Pro451=
XM_006723961.4:c.1602G>A	XP_006724024.2:p.Pro534=
XM_006723962.4:c.1602G>A	XP_006724025.2:p.Pro534=
XM_011529434.3:c.1602G>A	XP_011527736.1:p.Pro534=
XM_011529435.3:c.1473G>A	XP_011527737.1:p.Pro491=
XM_011529436.3:c.1602G>A	XP_011527738.1:p.Pro534=
XM_011529437.3:c.1602G>A	XP_011527739.1:p.Pro534=
XM_011529439.2:c.1089G>A	XP_011527741.1:p.Pro363=
XR_937433.3:n.1819G>A
NM_206965.2:c.1353G>A MANE Select	NP_996848.1:p.Pro451=
NM_001320412.2:c.1353G>A	NP_001307341.1:p.Pro451=
NM_006657.3:c.1353G>A	NP_006648.1:p.Pro451=