Canonical Allele Identifier: CA1587311988
Gene: FCHSD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647427C= , CM000667.2:g.141647427C= GRCh38
NC_000005.9:g.141026994C= , CM000667.1:g.141026994C= GRCh37
NC_000005.8:g.141007178C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.799G= MANE Select ENSP00000399259.2:p.Ala267=
ENST00000435817.6:c.799G= ENSP00000399259.2:p.Ala267=
ENST00000522126.5:c.571G= ENSP00000427796.1:p.Ala191=
ENST00000522386.1:n.405G=
ENST00000522763.5:n.103G=
ENST00000522783.5:c.793G= ENSP00000428677.1:p.Ala265=
ENST00000523856.5:n.57G=
NM_033449.2:c.799G= NP_258260.1:p.Ala267=
XM_005268524.3:c.793G= XP_005268581.1:p.Ala265=
XM_006714803.2:c.670G= XP_006714866.1:p.Ala224=
XM_011537698.1:c.799G= XP_011536000.1:p.Ala267=
XM_011537699.1:c.799G= XP_011536001.1:p.Ala267=
XM_011537700.1:c.799G= XP_011536002.1:p.Ala267=
XM_011537701.1:c.799G= XP_011536003.1:p.Ala267=
XR_427781.2:n.853G=
XR_944338.1:n.859G=
XR_944339.1:n.859G=
XM_005268524.5:c.793G= XP_005268581.1:p.Ala265=
XM_006714803.4:c.670G= XP_006714866.1:p.Ala224=
XM_011537698.3:c.799G= XP_011536000.1:p.Ala267=
XM_011537700.3:c.799G= XP_011536002.1:p.Ala267=
XM_011537701.3:c.799G= XP_011536003.1:p.Ala267=
XM_017010013.2:c.799G= XP_016865502.1:p.Ala267=
XR_002956197.1:n.795G=
XR_427781.4:n.795G=
XR_944338.3:n.874G=
XR_944339.3:n.874G=
NM_033449.3:c.799G= MANE Select NP_258260.1:p.Ala267=