Canonical Allele Identifier: CA410559448

Gene: FTCD

Linked Data

• gnomAD v4: 21-46138632-A-G
• MyVariant Identifiers: chr21:g.47558546A>G (hg19) ; chr21:g.46138632A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138632A>G , CM000683.2:g.46138632A>G	GRCh38
NC_000021.8:g.47558546A>G , CM000683.1:g.47558546A>G	GRCh37
NC_000021.7:g.46382974A>G	NCBI36
NG_016191.1:g.21936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-146T>C	ENSP00000507070.1:n.-146T>C
ENST00000494498.2:c.53T>C	ENSP00000507847.1:p.Leu18Pro
ENST00000397746.8:c.1319T>C MANE Select	ENSP00000380854.3:p.Leu440Pro
ENST00000291670.9:c.1319T>C	ENSP00000291670.5:p.Leu440Pro
ENST00000397743.1:c.1275T>C	ENSP00000380851.1:p.Pro425=
ENST00000397746.7:c.1319T>C	ENSP00000380854.3:p.Leu440Pro
ENST00000397748.5:c.1319T>C	ENSP00000380856.1:p.Leu440Pro
ENST00000460011.5:n.648T>C
ENST00000488577.1:n.345T>C
ENST00000494498.1:n.620T>C
ENST00000498355.6:n.1388T>C
NM_006657.2:c.1319T>C	NP_006648.1:p.Leu440Pro
NM_206965.1:c.1319T>C	NP_996848.1:p.Leu440Pro
XM_006723961.2:c.1568T>C	XP_006724024.2:p.Leu523Pro
XM_006723962.2:c.1568T>C	XP_006724025.2:p.Leu523Pro
XM_011529434.1:c.1568T>C	XP_011527736.1:p.Leu523Pro
XM_011529435.1:c.1439T>C	XP_011527737.1:p.Leu480Pro
XM_011529436.1:c.1568T>C	XP_011527738.1:p.Leu523Pro
XM_011529437.1:c.1568T>C	XP_011527739.1:p.Leu523Pro
XM_011529438.1:c.1439T>C	XP_011527740.1:p.Leu480Pro
XM_011529439.1:c.1055T>C	XP_011527741.1:p.Leu352Pro
XR_937433.1:n.1751T>C
NM_001320412.1:c.1319T>C	NP_001307341.1:p.Leu440Pro
XM_006723961.4:c.1568T>C	XP_006724024.2:p.Leu523Pro
XM_006723962.4:c.1568T>C	XP_006724025.2:p.Leu523Pro
XM_011529434.3:c.1568T>C	XP_011527736.1:p.Leu523Pro
XM_011529435.3:c.1439T>C	XP_011527737.1:p.Leu480Pro
XM_011529436.3:c.1568T>C	XP_011527738.1:p.Leu523Pro
XM_011529437.3:c.1568T>C	XP_011527739.1:p.Leu523Pro
XM_011529439.2:c.1055T>C	XP_011527741.1:p.Leu352Pro
XR_937433.3:n.1785T>C
NM_206965.2:c.1319T>C MANE Select	NP_996848.1:p.Leu440Pro
NM_001320412.2:c.1319T>C	NP_001307341.1:p.Leu440Pro
NM_006657.3:c.1319T>C	NP_006648.1:p.Leu440Pro