Canonical Allele Identifier: CA638498049

Gene: FTCD

Linked Data

• dbSNP Id: rs762273298
• gnomAD v2: 21-47558409-C-G
• gnomAD v4: 21-46138495-C-G
• MyVariant Identifiers: chr21:g.47558409C>G (hg19) ; chr21:g.46138495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138495C>G , CM000683.2:g.46138495C>G	GRCh38
NC_000021.8:g.47558409C>G , CM000683.1:g.47558409C>G	GRCh37
NC_000021.7:g.46382837C>G	NCBI36
NG_016191.1:g.22073G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000460011.6:c.-22+13G>C	ENSP00000507070.1:n.-22+13G>C
ENST00000494498.2:c.177+13G>C	ENSP00000507847.1:n.177+13G>C
ENST00000397746.8:c.1443+13G>C MANE Select	ENSP00000380854.3:n.1443+13G>C
ENST00000291670.9:c.1443+13G>C	ENSP00000291670.5:n.1443+13G>C
ENST00000397743.1:c.1399+13G>C	ENSP00000380851.1:n.1399+13G>C
ENST00000397746.7:c.1443+13G>C	ENSP00000380854.3:n.1443+13G>C
ENST00000397748.5:c.1443+13G>C	ENSP00000380856.1:n.1443+13G>C
ENST00000446405.5:c.65+13G>C
ENST00000460011.5:n.772+13G>C
ENST00000494498.1:n.744+13G>C
ENST00000498355.6:n.1512+13G>C
NM_006657.2:c.1443+13G>C	NP_006648.1:n.1443+13G>C
NM_206965.1:c.1443+13G>C	NP_996848.1:n.1443+13G>C
XM_006723961.2:c.1692+13G>C	XP_006724024.2:n.1692+13G>C
XM_006723962.2:c.1692+13G>C	XP_006724025.2:n.1692+13G>C
XM_011529434.1:c.1692+13G>C	XP_011527736.1:n.1692+13G>C
XM_011529435.1:c.1563+13G>C	XP_011527737.1:n.1563+13G>C
XM_011529436.1:c.1692+13G>C	XP_011527738.1:n.1692+13G>C
XM_011529437.1:c.1692+13G>C	XP_011527739.1:n.1692+13G>C
XM_011529438.1:c.1563+13G>C	XP_011527740.1:n.1563+13G>C
XM_011529439.1:c.1179+13G>C	XP_011527741.1:n.1179+13G>C
XR_937433.1:n.1875+13G>C
NM_001320412.1:c.1443+13G>C	NP_001307341.1:n.1443+13G>C
XM_006723961.4:c.1692+13G>C	XP_006724024.2:n.1692+13G>C
XM_006723962.4:c.1692+13G>C	XP_006724025.2:n.1692+13G>C
XM_011529434.3:c.1692+13G>C	XP_011527736.1:n.1692+13G>C
XM_011529435.3:c.1563+13G>C	XP_011527737.1:n.1563+13G>C
XM_011529436.3:c.1692+13G>C	XP_011527738.1:n.1692+13G>C
XM_011529437.3:c.1692+13G>C	XP_011527739.1:n.1692+13G>C
XM_011529439.2:c.1179+13G>C	XP_011527741.1:n.1179+13G>C
XR_937433.3:n.1909+13G>C
NM_206965.2:c.1443+13G>C MANE Select	NP_996848.1:n.1443+13G>C
NM_001320412.2:c.1443+13G>C	NP_001307341.1:n.1443+13G>C
NM_006657.3:c.1443+13G>C	NP_006648.1:n.1443+13G>C