Canonical Allele Identifier: CA410558642

Gene: FTCD

Linked Data

• dbSNP Id: rs2123481214
• gnomAD v4: 21-46138533-T-G
• MyVariant Identifiers: chr21:g.47558447T>G (hg19) ; chr21:g.46138533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138533T>G , CM000683.2:g.46138533T>G	GRCh38
NC_000021.8:g.47558447T>G , CM000683.1:g.47558447T>G	GRCh37
NC_000021.7:g.46382875T>G	NCBI36
NG_016191.1:g.22035A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-47A>C	ENSP00000507070.1:n.-47A>C
ENST00000494498.2:c.152A>C	ENSP00000507847.1:p.Asn51Thr
ENST00000397746.8:c.1418A>C MANE Select	ENSP00000380854.3:p.Asn473Thr
ENST00000291670.9:c.1418A>C	ENSP00000291670.5:p.Asn473Thr
ENST00000397743.1:c.1374A>C	ENSP00000380851.1:p.Glu458Asp
ENST00000397746.7:c.1418A>C	ENSP00000380854.3:p.Asn473Thr
ENST00000397748.5:c.1418A>C	ENSP00000380856.1:p.Asn473Thr
ENST00000446405.5:c.40A>C
ENST00000460011.5:n.747A>C
ENST00000488577.1:n.444A>C
ENST00000494498.1:n.719A>C
ENST00000498355.6:n.1487A>C
NM_006657.2:c.1418A>C	NP_006648.1:p.Asn473Thr
NM_206965.1:c.1418A>C	NP_996848.1:p.Asn473Thr
XM_006723961.2:c.1667A>C	XP_006724024.2:p.Asn556Thr
XM_006723962.2:c.1667A>C	XP_006724025.2:p.Asn556Thr
XM_011529434.1:c.1667A>C	XP_011527736.1:p.Asn556Thr
XM_011529435.1:c.1538A>C	XP_011527737.1:p.Asn513Thr
XM_011529436.1:c.1667A>C	XP_011527738.1:p.Asn556Thr
XM_011529437.1:c.1667A>C	XP_011527739.1:p.Asn556Thr
XM_011529438.1:c.1538A>C	XP_011527740.1:p.Asn513Thr
XM_011529439.1:c.1154A>C	XP_011527741.1:p.Asn385Thr
XR_937433.1:n.1850A>C
NM_001320412.1:c.1418A>C	NP_001307341.1:p.Asn473Thr
XM_006723961.4:c.1667A>C	XP_006724024.2:p.Asn556Thr
XM_006723962.4:c.1667A>C	XP_006724025.2:p.Asn556Thr
XM_011529434.3:c.1667A>C	XP_011527736.1:p.Asn556Thr
XM_011529435.3:c.1538A>C	XP_011527737.1:p.Asn513Thr
XM_011529436.3:c.1667A>C	XP_011527738.1:p.Asn556Thr
XM_011529437.3:c.1667A>C	XP_011527739.1:p.Asn556Thr
XM_011529439.2:c.1154A>C	XP_011527741.1:p.Asn385Thr
XR_937433.3:n.1884A>C
NM_206965.2:c.1418A>C MANE Select	NP_996848.1:p.Asn473Thr
NM_001320412.2:c.1418A>C	NP_001307341.1:p.Asn473Thr
NM_006657.3:c.1418A>C	NP_006648.1:p.Asn473Thr