Canonical Allele Identifier: CA3480834

Gene: FCHSD1

Linked Data

• dbSNP Id: rs752975574
• ExAC: 5:141026988 G / A
• gnomAD v2: 5-141026988-G-A
• gnomAD v3: 5-141647421-G-A
• gnomAD v4: 5-141647421-G-A
• MyVariant Identifiers: chr5:g.141026988G>A (hg19) ; chr5:g.141647421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647421G>A , CM000667.2:g.141647421G>A	GRCh38
NC_000005.9:g.141026988G>A , CM000667.1:g.141026988G>A	GRCh37
NC_000005.8:g.141007172G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.805C>T MANE Select	ENSP00000399259.2:p.Arg269Cys
ENST00000435817.6:c.805C>T	ENSP00000399259.2:p.Arg269Cys
ENST00000522126.5:c.577C>T	ENSP00000427796.1:p.Arg193Cys
ENST00000522386.1:n.411C>T
ENST00000522763.5:n.109C>T
ENST00000522783.5:c.799C>T	ENSP00000428677.1:p.Arg267Cys
ENST00000523856.5:n.63C>T
NM_033449.2:c.805C>T	NP_258260.1:p.Arg269Cys
XM_005268524.3:c.799C>T	XP_005268581.1:p.Arg267Cys
XM_006714803.2:c.676C>T	XP_006714866.1:p.Arg226Cys
XM_011537698.1:c.805C>T	XP_011536000.1:p.Arg269Cys
XM_011537699.1:c.805C>T	XP_011536001.1:p.Arg269Cys
XM_011537700.1:c.805C>T	XP_011536002.1:p.Arg269Cys
XM_011537701.1:c.805C>T	XP_011536003.1:p.Arg269Cys
XR_427781.2:n.859C>T
XR_944338.1:n.865C>T
XR_944339.1:n.865C>T
XM_005268524.5:c.799C>T	XP_005268581.1:p.Arg267Cys
XM_006714803.4:c.676C>T	XP_006714866.1:p.Arg226Cys
XM_011537698.3:c.805C>T	XP_011536000.1:p.Arg269Cys
XM_011537700.3:c.805C>T	XP_011536002.1:p.Arg269Cys
XM_011537701.3:c.805C>T	XP_011536003.1:p.Arg269Cys
XM_017010013.2:c.805C>T	XP_016865502.1:p.Arg269Cys
XR_002956197.1:n.801C>T
XR_427781.4:n.801C>T
XR_944338.3:n.880C>T
XR_944339.3:n.880C>T
NM_033449.3:c.805C>T MANE Select	NP_258260.1:p.Arg269Cys