Canonical Allele Identifier: CA446897215
Gene: FCHSD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.141026708A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647141A>T , CM000667.2:g.141647141A>T GRCh38
NC_000005.9:g.141026708A>T , CM000667.1:g.141026708A>T GRCh37
NC_000005.8:g.141006892A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000435817.7:c.918T>A MANE Select ENSP00000399259.2:p.Thr306=
ENST00000435817.6:c.918T>A ENSP00000399259.2:p.Thr306=
ENST00000522126.5:c.690T>A ENSP00000427796.1:p.Thr230=
ENST00000522386.1:n.524T>A
ENST00000522763.5:n.222T>A
ENST00000522783.5:c.912T>A ENSP00000428677.1:p.Thr304=
ENST00000523856.5:n.176T>A
NM_033449.2:c.918T>A NP_258260.1:p.Thr306=
XM_005268524.3:c.912T>A XP_005268581.1:p.Thr304=
XM_006714803.2:c.789T>A XP_006714866.1:p.Thr263=
XM_011537698.1:c.918T>A XP_011536000.1:p.Thr306=
XM_011537699.1:c.918T>A XP_011536001.1:p.Thr306=
XM_011537700.1:c.918T>A XP_011536002.1:p.Thr306=
XM_011537701.1:c.918T>A XP_011536003.1:p.Thr306=
XR_427781.2:n.972T>A
XR_944338.1:n.978T>A
XR_944339.1:n.978T>A
XM_005268524.5:c.912T>A XP_005268581.1:p.Thr304=
XM_006714803.4:c.789T>A XP_006714866.1:p.Thr263=
XM_011537698.3:c.918T>A XP_011536000.1:p.Thr306=
XM_011537700.3:c.918T>A XP_011536002.1:p.Thr306=
XM_011537701.3:c.918T>A XP_011536003.1:p.Thr306=
XM_017010013.2:c.918T>A XP_016865502.1:p.Thr306=
XR_002956197.1:n.914T>A
XR_427781.4:n.914T>A
XR_944338.3:n.993T>A
XR_944339.3:n.993T>A
NM_033449.3:c.918T>A MANE Select NP_258260.1:p.Thr306=