Canonical Allele Identifier: CA10073216

Gene: FTCD

Linked Data

• ClinVar Variation Id: 340410
• ClinVar RCV Id: RCV003957754
• dbSNP Id: rs114980528
• ExAC: 21:47556396 G / T
• gnomAD v2: 21-47556396-G-T
• gnomAD v3: 21-46136482-G-T
• gnomAD v4: 21-46136482-G-T
• MyVariant Identifiers: chr21:g.47556396G>T (hg19) ; chr21:g.46136482G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46136482G>T , CM000683.2:g.46136482G>T	GRCh38
NC_000021.8:g.47556396G>T , CM000683.1:g.47556396G>T	GRCh37
NC_000021.7:g.46380824G>T	NCBI36
NG_016191.1:g.24086C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000460011.6:c.*85C>A	ENSP00000507070.1:n.*85C>A
ENST00000494498.2:c.*15C>A	ENSP00000507847.1:n.*15C>A
ENST00000291670.9:c.*15C>A	ENSP00000291670.5:n.*15C>A
ENST00000397748.5:c.1691C>A	ENSP00000380856.1:p.Thr564Lys
ENST00000460011.5:n.1040C>A
ENST00000483568.5:n.178C>A
ENST00000498355.6:n.1716C>A
NM_006657.2:c.*15C>A	NP_006648.1:n.*15C>A
XM_011529434.1:c.1870C>A	XP_011527736.1:p.Gln624Lys
XM_011529435.1:c.1741C>A	XP_011527737.1:p.Gln581Lys
XM_011529436.1:c.1940C>A	XP_011527738.1:p.Thr647Lys
XM_011529437.1:c.*15C>A	XP_011527739.1:n.*15C>A
XM_011529438.1:c.1811C>A	XP_011527740.1:p.Thr604Lys
XM_011529439.1:c.1357C>A	XP_011527741.1:p.Gln453Lys
XR_937433.1:n.2143C>A
NM_001320412.1:c.1691C>A	NP_001307341.1:p.Thr564Lys
XM_011529434.3:c.1870C>A	XP_011527736.1:p.Gln624Lys
XM_011529435.3:c.1741C>A	XP_011527737.1:p.Gln581Lys
XM_011529436.3:c.1940C>A	XP_011527738.1:p.Thr647Lys
XM_011529437.3:c.*15C>A	XP_011527739.1:n.*15C>A
XM_011529439.2:c.1357C>A	XP_011527741.1:p.Gln453Lys
XR_937433.3:n.2177C>A
NM_001320412.2:c.1691C>A	NP_001307341.1:p.Thr564Lys
NM_006657.3:c.*15C>A	NP_006648.1:n.*15C>A