Canonical Allele Identifier: CA410559114

Gene: FTCD

Linked Data

• MyVariant Identifiers: chr21:g.47558510A>C (hg19) ; chr21:g.46138596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138596A>C , CM000683.2:g.46138596A>C	GRCh38
NC_000021.8:g.47558510A>C , CM000683.1:g.47558510A>C	GRCh37
NC_000021.7:g.46382938A>C	NCBI36
NG_016191.1:g.21972T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460011.6:c.-110T>G	ENSP00000507070.1:n.-110T>G
ENST00000494498.2:c.89T>G	ENSP00000507847.1:p.Leu30Arg
ENST00000397746.8:c.1355T>G MANE Select	ENSP00000380854.3:p.Leu452Arg
ENST00000291670.9:c.1355T>G	ENSP00000291670.5:p.Leu452Arg
ENST00000397743.1:c.1311T>G	ENSP00000380851.1:p.Ala437=
ENST00000397746.7:c.1355T>G	ENSP00000380854.3:p.Leu452Arg
ENST00000397748.5:c.1355T>G	ENSP00000380856.1:p.Leu452Arg
ENST00000460011.5:n.684T>G
ENST00000488577.1:n.381T>G
ENST00000494498.1:n.656T>G
ENST00000498355.6:n.1424T>G
NM_006657.2:c.1355T>G	NP_006648.1:p.Leu452Arg
NM_206965.1:c.1355T>G	NP_996848.1:p.Leu452Arg
XM_006723961.2:c.1604T>G	XP_006724024.2:p.Leu535Arg
XM_006723962.2:c.1604T>G	XP_006724025.2:p.Leu535Arg
XM_011529434.1:c.1604T>G	XP_011527736.1:p.Leu535Arg
XM_011529435.1:c.1475T>G	XP_011527737.1:p.Leu492Arg
XM_011529436.1:c.1604T>G	XP_011527738.1:p.Leu535Arg
XM_011529437.1:c.1604T>G	XP_011527739.1:p.Leu535Arg
XM_011529438.1:c.1475T>G	XP_011527740.1:p.Leu492Arg
XM_011529439.1:c.1091T>G	XP_011527741.1:p.Leu364Arg
XR_937433.1:n.1787T>G
NM_001320412.1:c.1355T>G	NP_001307341.1:p.Leu452Arg
XM_006723961.4:c.1604T>G	XP_006724024.2:p.Leu535Arg
XM_006723962.4:c.1604T>G	XP_006724025.2:p.Leu535Arg
XM_011529434.3:c.1604T>G	XP_011527736.1:p.Leu535Arg
XM_011529435.3:c.1475T>G	XP_011527737.1:p.Leu492Arg
XM_011529436.3:c.1604T>G	XP_011527738.1:p.Leu535Arg
XM_011529437.3:c.1604T>G	XP_011527739.1:p.Leu535Arg
XM_011529439.2:c.1091T>G	XP_011527741.1:p.Leu364Arg
XR_937433.3:n.1821T>G
NM_206965.2:c.1355T>G MANE Select	NP_996848.1:p.Leu452Arg
NM_001320412.2:c.1355T>G	NP_001307341.1:p.Leu452Arg
NM_006657.3:c.1355T>G	NP_006648.1:p.Leu452Arg