Canonical Allele Identifier: CA446897312
Gene: FCHSD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.141027010C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647443C>T , CM000667.2:g.141647443C>T GRCh38
NC_000005.9:g.141027010C>T , CM000667.1:g.141027010C>T GRCh37
NC_000005.8:g.141007194C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.783G>A MANE Select ENSP00000399259.2:p.Glu261=
ENST00000435817.6:c.783G>A ENSP00000399259.2:p.Glu261=
ENST00000522126.5:c.555G>A ENSP00000427796.1:p.Glu185=
ENST00000522386.1:n.389G>A
ENST00000522763.5:n.87G>A
ENST00000522783.5:c.777G>A ENSP00000428677.1:p.Glu259=
ENST00000523856.5:n.41G>A
NM_033449.2:c.783G>A NP_258260.1:p.Glu261=
XM_005268524.3:c.777G>A XP_005268581.1:p.Glu259=
XM_006714803.2:c.654G>A XP_006714866.1:p.Glu218=
XM_011537698.1:c.783G>A XP_011536000.1:p.Glu261=
XM_011537699.1:c.783G>A XP_011536001.1:p.Glu261=
XM_011537700.1:c.783G>A XP_011536002.1:p.Glu261=
XM_011537701.1:c.783G>A XP_011536003.1:p.Glu261=
XR_427781.2:n.837G>A
XR_944338.1:n.843G>A
XR_944339.1:n.843G>A
XM_005268524.5:c.777G>A XP_005268581.1:p.Glu259=
XM_006714803.4:c.654G>A XP_006714866.1:p.Glu218=
XM_011537698.3:c.783G>A XP_011536000.1:p.Glu261=
XM_011537700.3:c.783G>A XP_011536002.1:p.Glu261=
XM_011537701.3:c.783G>A XP_011536003.1:p.Glu261=
XM_017010013.2:c.783G>A XP_016865502.1:p.Glu261=
XR_002956197.1:n.779G>A
XR_427781.4:n.779G>A
XR_944338.3:n.858G>A
XR_944339.3:n.858G>A
NM_033449.3:c.783G>A MANE Select NP_258260.1:p.Glu261=