Canonical Allele Identifier: CA10073695

Gene: FTCD

Linked Data

• dbSNP Id: rs138650765
• ExAC: 21:47570083 A / G
• gnomAD v2: 21-47570083-A-G
• gnomAD v4: 21-46150169-A-G
• MyVariant Identifiers: chr21:g.47570083A>G (hg19) ; chr21:g.46150169A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46150169A>G , CM000683.2:g.46150169A>G	GRCh38
NC_000021.8:g.47570083A>G , CM000683.1:g.47570083A>G	GRCh37
NC_000021.7:g.46394511A>G	NCBI36
NG_016191.1:g.10399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397746.8:c.856T>C MANE Select	ENSP00000380854.3:p.Cys286Arg
ENST00000291670.9:c.856T>C	ENSP00000291670.5:p.Cys286Arg
ENST00000397743.1:c.856T>C	ENSP00000380851.1:p.Cys286Arg
ENST00000397746.7:c.856T>C	ENSP00000380854.3:p.Cys286Arg
ENST00000397748.5:c.856T>C	ENSP00000380856.1:p.Cys286Arg
ENST00000498355.6:n.925T>C
NM_006657.2:c.856T>C	NP_006648.1:p.Cys286Arg
NM_206965.1:c.856T>C	NP_996848.1:p.Cys286Arg
XM_006723961.2:c.976T>C	XP_006724024.2:p.Cys326Arg
XM_006723962.2:c.976T>C	XP_006724025.2:p.Cys326Arg
XM_011529434.1:c.976T>C	XP_011527736.1:p.Cys326Arg
XM_011529435.1:c.976T>C	XP_011527737.1:p.Cys326Arg
XM_011529436.1:c.976T>C	XP_011527738.1:p.Cys326Arg
XM_011529437.1:c.976T>C	XP_011527739.1:p.Cys326Arg
XM_011529438.1:c.976T>C	XP_011527740.1:p.Cys326Arg
XM_011529439.1:c.463T>C	XP_011527741.1:p.Cys155Arg
XM_011529440.1:c.976T>C	XP_011527742.1:p.Cys326Arg
XR_937433.1:n.1159T>C
NM_001320412.1:c.856T>C	NP_001307341.1:p.Cys286Arg
XM_006723961.4:c.976T>C	XP_006724024.2:p.Cys326Arg
XM_006723962.4:c.976T>C	XP_006724025.2:p.Cys326Arg
XM_011529434.3:c.976T>C	XP_011527736.1:p.Cys326Arg
XM_011529435.3:c.976T>C	XP_011527737.1:p.Cys326Arg
XM_011529436.3:c.976T>C	XP_011527738.1:p.Cys326Arg
XM_011529437.3:c.976T>C	XP_011527739.1:p.Cys326Arg
XM_011529439.2:c.463T>C	XP_011527741.1:p.Cys155Arg
XM_011529440.3:c.976T>C	XP_011527742.1:p.Cys326Arg
XR_937433.3:n.1193T>C
NM_206965.2:c.856T>C MANE Select	NP_996848.1:p.Cys286Arg
NM_001320412.2:c.856T>C	NP_001307341.1:p.Cys286Arg
NM_006657.3:c.856T>C	NP_006648.1:p.Cys286Arg