Canonical Allele Identifier: CA3480833

Gene: FCHSD1

Linked Data

• dbSNP Id: rs368897773
• ExAC: 5:141026987 C / T
• gnomAD v2: 5-141026987-C-T
• gnomAD v3: 5-141647420-C-T
• gnomAD v4: 5-141647420-C-T
• MyVariant Identifiers: chr5:g.141026987C>T (hg19) ; chr5:g.141647420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647420C>T , CM000667.2:g.141647420C>T	GRCh38
NC_000005.9:g.141026987C>T , CM000667.1:g.141026987C>T	GRCh37
NC_000005.8:g.141007171C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.806G>A MANE Select	ENSP00000399259.2:p.Arg269His
ENST00000435817.6:c.806G>A	ENSP00000399259.2:p.Arg269His
ENST00000522126.5:c.578G>A	ENSP00000427796.1:p.Arg193His
ENST00000522386.1:n.412G>A
ENST00000522763.5:n.110G>A
ENST00000522783.5:c.800G>A	ENSP00000428677.1:p.Arg267His
ENST00000523856.5:n.64G>A
NM_033449.2:c.806G>A	NP_258260.1:p.Arg269His
XM_005268524.3:c.800G>A	XP_005268581.1:p.Arg267His
XM_006714803.2:c.677G>A	XP_006714866.1:p.Arg226His
XM_011537698.1:c.806G>A	XP_011536000.1:p.Arg269His
XM_011537699.1:c.806G>A	XP_011536001.1:p.Arg269His
XM_011537700.1:c.806G>A	XP_011536002.1:p.Arg269His
XM_011537701.1:c.806G>A	XP_011536003.1:p.Arg269His
XR_427781.2:n.860G>A
XR_944338.1:n.866G>A
XR_944339.1:n.866G>A
XM_005268524.5:c.800G>A	XP_005268581.1:p.Arg267His
XM_006714803.4:c.677G>A	XP_006714866.1:p.Arg226His
XM_011537698.3:c.806G>A	XP_011536000.1:p.Arg269His
XM_011537700.3:c.806G>A	XP_011536002.1:p.Arg269His
XM_011537701.3:c.806G>A	XP_011536003.1:p.Arg269His
XM_017010013.2:c.806G>A	XP_016865502.1:p.Arg269His
XR_002956197.1:n.802G>A
XR_427781.4:n.802G>A
XR_944338.3:n.881G>A
XR_944339.3:n.881G>A
NM_033449.3:c.806G>A MANE Select	NP_258260.1:p.Arg269His