Canonical Allele Identifier: CA410558942

Gene: FTCD

Linked Data

• gnomAD v4: 21-46138570-G-C
• MyVariant Identifiers: chr21:g.47558484G>C (hg19) ; chr21:g.46138570G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138570G>C , CM000683.2:g.46138570G>C	GRCh38
NC_000021.8:g.47558484G>C , CM000683.1:g.47558484G>C	GRCh37
NC_000021.7:g.46382912G>C	NCBI36
NG_016191.1:g.21998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-84C>G	ENSP00000507070.1:n.-84C>G
ENST00000494498.2:c.115C>G	ENSP00000507847.1:p.Leu39Val
ENST00000397746.8:c.1381C>G MANE Select	ENSP00000380854.3:p.Leu461Val
ENST00000291670.9:c.1381C>G	ENSP00000291670.5:p.Leu461Val
ENST00000397743.1:c.1337C>G	ENSP00000380851.1:p.Ala446Gly
ENST00000397746.7:c.1381C>G	ENSP00000380854.3:p.Leu461Val
ENST00000397748.5:c.1381C>G	ENSP00000380856.1:p.Leu461Val
ENST00000446405.5:c.3C>G
ENST00000460011.5:n.710C>G
ENST00000488577.1:n.407C>G
ENST00000494498.1:n.682C>G
ENST00000498355.6:n.1450C>G
NM_006657.2:c.1381C>G	NP_006648.1:p.Leu461Val
NM_206965.1:c.1381C>G	NP_996848.1:p.Leu461Val
XM_006723961.2:c.1630C>G	XP_006724024.2:p.Leu544Val
XM_006723962.2:c.1630C>G	XP_006724025.2:p.Leu544Val
XM_011529434.1:c.1630C>G	XP_011527736.1:p.Leu544Val
XM_011529435.1:c.1501C>G	XP_011527737.1:p.Leu501Val
XM_011529436.1:c.1630C>G	XP_011527738.1:p.Leu544Val
XM_011529437.1:c.1630C>G	XP_011527739.1:p.Leu544Val
XM_011529438.1:c.1501C>G	XP_011527740.1:p.Leu501Val
XM_011529439.1:c.1117C>G	XP_011527741.1:p.Leu373Val
XR_937433.1:n.1813C>G
NM_001320412.1:c.1381C>G	NP_001307341.1:p.Leu461Val
XM_006723961.4:c.1630C>G	XP_006724024.2:p.Leu544Val
XM_006723962.4:c.1630C>G	XP_006724025.2:p.Leu544Val
XM_011529434.3:c.1630C>G	XP_011527736.1:p.Leu544Val
XM_011529435.3:c.1501C>G	XP_011527737.1:p.Leu501Val
XM_011529436.3:c.1630C>G	XP_011527738.1:p.Leu544Val
XM_011529437.3:c.1630C>G	XP_011527739.1:p.Leu544Val
XM_011529439.2:c.1117C>G	XP_011527741.1:p.Leu373Val
XR_937433.3:n.1847C>G
NM_206965.2:c.1381C>G MANE Select	NP_996848.1:p.Leu461Val
NM_001320412.2:c.1381C>G	NP_001307341.1:p.Leu461Val
NM_006657.3:c.1381C>G	NP_006648.1:p.Leu461Val