Canonical Allele Identifier: CA410555622
Gene: FTCD HGNC NCBI

Linked Data

ClinVar Variation Id: 2954983
ClinVar RCV Id: RCV003816182

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46137039G>A , CM000683.2:g.46137039G>A GRCh38
NC_000021.8:g.47556953G>A , CM000683.1:g.47556953G>A GRCh37
NC_000021.7:g.46381381G>A NCBI36
NG_016191.1:g.23529C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460011.6:c.110C>T ENSP00000507070.1:p.Ala37Val
ENST00000494498.2:c.308C>T ENSP00000507847.1:p.Ala103Val
ENST00000397746.8:c.1574C>T MANE Select ENSP00000380854.3:p.Ala525Val
ENST00000291670.9:c.1574C>T ENSP00000291670.5:p.Ala525Val
ENST00000397743.1:c.*42C>T ENSP00000380851.1:n.*42C>T
ENST00000397746.7:c.1574C>T ENSP00000380854.3:p.Ala525Val
ENST00000397748.5:c.1554C>T ENSP00000380856.1:p.Ser518=
ENST00000446405.5:c.176C>T
ENST00000460011.5:n.903C>T
ENST00000483568.5:n.111C>T
ENST00000498355.6:n.1643C>T
NM_006657.2:c.1574C>T NP_006648.1:p.Ala525Val
NM_206965.1:c.1574C>T NP_996848.1:p.Ala525Val
XM_006723961.2:c.1823C>T XP_006724024.2:p.Ala608Val
XM_006723962.2:c.1803C>T XP_006724025.2:p.Ser601=
XM_011529434.1:c.1803C>T XP_011527736.1:p.Ser601=
XM_011529435.1:c.1674C>T XP_011527737.1:p.Ser558=
XM_011529436.1:c.1803C>T XP_011527738.1:p.Ser601=
XM_011529437.1:c.1823C>T XP_011527739.1:p.Ala608Val
XM_011529438.1:c.1674C>T XP_011527740.1:p.Ser558=
XM_011529439.1:c.1290C>T XP_011527741.1:p.Ser430=
XR_937433.1:n.2006C>T
NM_001320412.1:c.1554C>T NP_001307341.1:p.Ser518=
XM_006723961.4:c.1823C>T XP_006724024.2:p.Ala608Val
XM_006723962.4:c.1803C>T XP_006724025.2:p.Ser601=
XM_011529434.3:c.1803C>T XP_011527736.1:p.Ser601=
XM_011529435.3:c.1674C>T XP_011527737.1:p.Ser558=
XM_011529436.3:c.1803C>T XP_011527738.1:p.Ser601=
XM_011529437.3:c.1823C>T XP_011527739.1:p.Ala608Val
XM_011529439.2:c.1290C>T XP_011527741.1:p.Ser430=
XR_937433.3:n.2040C>T
NM_206965.2:c.1574C>T MANE Select NP_996848.1:p.Ala525Val
NM_001320412.2:c.1554C>T NP_001307341.1:p.Ser518=
NM_006657.3:c.1574C>T NP_006648.1:p.Ala525Val