Canonical Allele Identifier: CA148527

Gene: FTCD

Linked Data

• ClinVar Variation Id: 95424
• ClinVar RCV Id: RCV000081448 ; RCV001520879 ; RCV001723660
• dbSNP Id: rs1047179
• ExAC: 21:47558473 G / C
• gnomAD v2: 21-47558473-G-C
• gnomAD v3: 21-46138559-G-C
• gnomAD v4: 21-46138559-G-C
• MyVariant Identifiers: chr21:g.47558473G>C (hg19) ; chr21:g.46138559G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138559G>C , CM000683.2:g.46138559G>C	GRCh38
NC_000021.8:g.47558473G>C , CM000683.1:g.47558473G>C	GRCh37
NC_000021.7:g.46382901G>C	NCBI36
NG_016191.1:g.22009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-73C>G	ENSP00000507070.1:n.-73C>G
ENST00000494498.2:c.126C>G	ENSP00000507847.1:p.Ala42=
ENST00000397746.8:c.1392C>G MANE Select	ENSP00000380854.3:p.Ala464=
ENST00000291670.9:c.1392C>G	ENSP00000291670.5:p.Ala464=
ENST00000397743.1:c.1348C>G	ENSP00000380851.1:p.Pro450Ala
ENST00000397746.7:c.1392C>G	ENSP00000380854.3:p.Ala464=
ENST00000397748.5:c.1392C>G	ENSP00000380856.1:p.Ala464=
ENST00000446405.5:c.14C>G
ENST00000460011.5:n.721C>G
ENST00000488577.1:n.418C>G
ENST00000494498.1:n.693C>G
ENST00000498355.6:n.1461C>G
NM_006657.2:c.1392C>G	NP_006648.1:p.Ala464=
NM_206965.1:c.1392C>G	NP_996848.1:p.Ala464=
XM_006723961.2:c.1641C>G	XP_006724024.2:p.Ala547=
XM_006723962.2:c.1641C>G	XP_006724025.2:p.Ala547=
XM_011529434.1:c.1641C>G	XP_011527736.1:p.Ala547=
XM_011529435.1:c.1512C>G	XP_011527737.1:p.Ala504=
XM_011529436.1:c.1641C>G	XP_011527738.1:p.Ala547=
XM_011529437.1:c.1641C>G	XP_011527739.1:p.Ala547=
XM_011529438.1:c.1512C>G	XP_011527740.1:p.Ala504=
XM_011529439.1:c.1128C>G	XP_011527741.1:p.Ala376=
XR_937433.1:n.1824C>G
NM_001320412.1:c.1392C>G	NP_001307341.1:p.Ala464=
XM_006723961.4:c.1641C>G	XP_006724024.2:p.Ala547=
XM_006723962.4:c.1641C>G	XP_006724025.2:p.Ala547=
XM_011529434.3:c.1641C>G	XP_011527736.1:p.Ala547=
XM_011529435.3:c.1512C>G	XP_011527737.1:p.Ala504=
XM_011529436.3:c.1641C>G	XP_011527738.1:p.Ala547=
XM_011529437.3:c.1641C>G	XP_011527739.1:p.Ala547=
XM_011529439.2:c.1128C>G	XP_011527741.1:p.Ala376=
XR_937433.3:n.1858C>G
NM_206965.2:c.1392C>G MANE Select	NP_996848.1:p.Ala464=
NM_001320412.2:c.1392C>G	NP_001307341.1:p.Ala464=
NM_006657.3:c.1392C>G	NP_006648.1:p.Ala464=