Canonical Allele Identifier: CA10073433

Gene: FTCD

Linked Data

• ClinVar Variation Id: 1094396
• ClinVar RCV Id: RCV001414912
• dbSNP Id: rs767969299
• ExAC: 21:47558410 G / A
• gnomAD v2: 21-47558410-G-A
• gnomAD v3: 21-46138496-G-A
• gnomAD v4: 21-46138496-G-A
• MyVariant Identifiers: chr21:g.47558410G>A (hg19) ; chr21:g.46138496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138496G>A , CM000683.2:g.46138496G>A	GRCh38
NC_000021.8:g.47558410G>A , CM000683.1:g.47558410G>A	GRCh37
NC_000021.7:g.46382838G>A	NCBI36
NG_016191.1:g.22072C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460011.6:c.-22+12C>T	ENSP00000507070.1:n.-22+12C>T
ENST00000494498.2:c.177+12C>T	ENSP00000507847.1:n.177+12C>T
ENST00000397746.8:c.1443+12C>T MANE Select	ENSP00000380854.3:n.1443+12C>T
ENST00000291670.9:c.1443+12C>T	ENSP00000291670.5:n.1443+12C>T
ENST00000397743.1:c.1399+12C>T	ENSP00000380851.1:n.1399+12C>T
ENST00000397746.7:c.1443+12C>T	ENSP00000380854.3:n.1443+12C>T
ENST00000397748.5:c.1443+12C>T	ENSP00000380856.1:n.1443+12C>T
ENST00000446405.5:c.65+12C>T
ENST00000460011.5:n.772+12C>T
ENST00000494498.1:n.744+12C>T
ENST00000498355.6:n.1512+12C>T
NM_006657.2:c.1443+12C>T	NP_006648.1:n.1443+12C>T
NM_206965.1:c.1443+12C>T	NP_996848.1:n.1443+12C>T
XM_006723961.2:c.1692+12C>T	XP_006724024.2:n.1692+12C>T
XM_006723962.2:c.1692+12C>T	XP_006724025.2:n.1692+12C>T
XM_011529434.1:c.1692+12C>T	XP_011527736.1:n.1692+12C>T
XM_011529435.1:c.1563+12C>T	XP_011527737.1:n.1563+12C>T
XM_011529436.1:c.1692+12C>T	XP_011527738.1:n.1692+12C>T
XM_011529437.1:c.1692+12C>T	XP_011527739.1:n.1692+12C>T
XM_011529438.1:c.1563+12C>T	XP_011527740.1:n.1563+12C>T
XM_011529439.1:c.1179+12C>T	XP_011527741.1:n.1179+12C>T
XR_937433.1:n.1875+12C>T
NM_001320412.1:c.1443+12C>T	NP_001307341.1:n.1443+12C>T
XM_006723961.4:c.1692+12C>T	XP_006724024.2:n.1692+12C>T
XM_006723962.4:c.1692+12C>T	XP_006724025.2:n.1692+12C>T
XM_011529434.3:c.1692+12C>T	XP_011527736.1:n.1692+12C>T
XM_011529435.3:c.1563+12C>T	XP_011527737.1:n.1563+12C>T
XM_011529436.3:c.1692+12C>T	XP_011527738.1:n.1692+12C>T
XM_011529437.3:c.1692+12C>T	XP_011527739.1:n.1692+12C>T
XM_011529439.2:c.1179+12C>T	XP_011527741.1:n.1179+12C>T
XR_937433.3:n.1909+12C>T
NM_206965.2:c.1443+12C>T MANE Select	NP_996848.1:n.1443+12C>T
NM_001320412.2:c.1443+12C>T	NP_001307341.1:n.1443+12C>T
NM_006657.3:c.1443+12C>T	NP_006648.1:n.1443+12C>T