Canonical Allele Identifier: CA410516020

Gene: FTCD

Linked Data

• MyVariant Identifiers: chr21:g.47570043C>A (hg19) ; chr21:g.46150129C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46150129C>A , CM000683.2:g.46150129C>A	GRCh38
NC_000021.8:g.47570043C>A , CM000683.1:g.47570043C>A	GRCh37
NC_000021.7:g.46394471C>A	NCBI36
NG_016191.1:g.10439G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397746.8:c.896G>T MANE Select	ENSP00000380854.3:p.Arg299Leu
ENST00000291670.9:c.896G>T	ENSP00000291670.5:p.Arg299Leu
ENST00000397743.1:c.896G>T	ENSP00000380851.1:p.Arg299Leu
ENST00000397746.7:c.896G>T	ENSP00000380854.3:p.Arg299Leu
ENST00000397748.5:c.896G>T	ENSP00000380856.1:p.Arg299Leu
ENST00000498355.6:n.965G>T
NM_006657.2:c.896G>T	NP_006648.1:p.Arg299Leu
NM_206965.1:c.896G>T	NP_996848.1:p.Arg299Leu
XM_006723961.2:c.1016G>T	XP_006724024.2:p.Arg339Leu
XM_006723962.2:c.1016G>T	XP_006724025.2:p.Arg339Leu
XM_011529434.1:c.1016G>T	XP_011527736.1:p.Arg339Leu
XM_011529435.1:c.1016G>T	XP_011527737.1:p.Arg339Leu
XM_011529436.1:c.1016G>T	XP_011527738.1:p.Arg339Leu
XM_011529437.1:c.1016G>T	XP_011527739.1:p.Arg339Leu
XM_011529438.1:c.1016G>T	XP_011527740.1:p.Arg339Leu
XM_011529439.1:c.503G>T	XP_011527741.1:p.Arg168Leu
XM_011529440.1:c.1016G>T	XP_011527742.1:p.Arg339Leu
XR_937433.1:n.1199G>T
NM_001320412.1:c.896G>T	NP_001307341.1:p.Arg299Leu
XM_006723961.4:c.1016G>T	XP_006724024.2:p.Arg339Leu
XM_006723962.4:c.1016G>T	XP_006724025.2:p.Arg339Leu
XM_011529434.3:c.1016G>T	XP_011527736.1:p.Arg339Leu
XM_011529435.3:c.1016G>T	XP_011527737.1:p.Arg339Leu
XM_011529436.3:c.1016G>T	XP_011527738.1:p.Arg339Leu
XM_011529437.3:c.1016G>T	XP_011527739.1:p.Arg339Leu
XM_011529439.2:c.503G>T	XP_011527741.1:p.Arg168Leu
XM_011529440.3:c.1016G>T	XP_011527742.1:p.Arg339Leu
XR_937433.3:n.1233G>T
NM_206965.2:c.896G>T MANE Select	NP_996848.1:p.Arg299Leu
NM_001320412.2:c.896G>T	NP_001307341.1:p.Arg299Leu
NM_006657.3:c.896G>T	NP_006648.1:p.Arg299Leu