Canonical Allele Identifier: CA3480842
Gene: FCHSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2385449
ClinVar RCV Id: RCV004224167
dbSNP Id: rs373172811

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647459T>G , CM000667.2:g.141647459T>G GRCh38
NC_000005.9:g.141027026T>G , CM000667.1:g.141027026T>G GRCh37
NC_000005.8:g.141007210T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.767A>C MANE Select ENSP00000399259.2:p.Glu256Ala
ENST00000435817.6:c.767A>C ENSP00000399259.2:p.Glu256Ala
ENST00000522126.5:c.539A>C ENSP00000427796.1:p.Glu180Ala
ENST00000522386.1:n.373A>C
ENST00000522763.5:n.71A>C
ENST00000522783.5:c.761A>C ENSP00000428677.1:p.Glu254Ala
ENST00000523856.5:n.25A>C
NM_033449.2:c.767A>C NP_258260.1:p.Glu256Ala
XM_005268524.3:c.761A>C XP_005268581.1:p.Glu254Ala
XM_006714803.2:c.638A>C XP_006714866.1:p.Glu213Ala
XM_011537698.1:c.767A>C XP_011536000.1:p.Glu256Ala
XM_011537699.1:c.767A>C XP_011536001.1:p.Glu256Ala
XM_011537700.1:c.767A>C XP_011536002.1:p.Glu256Ala
XM_011537701.1:c.767A>C XP_011536003.1:p.Glu256Ala
XR_427781.2:n.821A>C
XR_944338.1:n.827A>C
XR_944339.1:n.827A>C
XM_005268524.5:c.761A>C XP_005268581.1:p.Glu254Ala
XM_006714803.4:c.638A>C XP_006714866.1:p.Glu213Ala
XM_011537698.3:c.767A>C XP_011536000.1:p.Glu256Ala
XM_011537700.3:c.767A>C XP_011536002.1:p.Glu256Ala
XM_011537701.3:c.767A>C XP_011536003.1:p.Glu256Ala
XM_017010013.2:c.767A>C XP_016865502.1:p.Glu256Ala
XR_002956197.1:n.763A>C
XR_427781.4:n.763A>C
XR_944338.3:n.842A>C
XR_944339.3:n.842A>C
NM_033449.3:c.767A>C MANE Select NP_258260.1:p.Glu256Ala