Canonical Allele Identifier: CA361564135

Gene: FCHSD1

Linked Data

• MyVariant Identifiers: chr5:g.141026977C>A (hg19) ; chr5:g.141647410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647410C>A , CM000667.2:g.141647410C>A	GRCh38
NC_000005.9:g.141026977C>A , CM000667.1:g.141026977C>A	GRCh37
NC_000005.8:g.141007161C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.816G>T MANE Select	ENSP00000399259.2:p.Gln272His
ENST00000435817.6:c.816G>T	ENSP00000399259.2:p.Gln272His
ENST00000522126.5:c.588G>T	ENSP00000427796.1:p.Gln196His
ENST00000522386.1:n.422G>T
ENST00000522763.5:n.120G>T
ENST00000522783.5:c.810G>T	ENSP00000428677.1:p.Gln270His
ENST00000523856.5:n.74G>T
NM_033449.2:c.816G>T	NP_258260.1:p.Gln272His
XM_005268524.3:c.810G>T	XP_005268581.1:p.Gln270His
XM_006714803.2:c.687G>T	XP_006714866.1:p.Gln229His
XM_011537698.1:c.816G>T	XP_011536000.1:p.Gln272His
XM_011537699.1:c.816G>T	XP_011536001.1:p.Gln272His
XM_011537700.1:c.816G>T	XP_011536002.1:p.Gln272His
XM_011537701.1:c.816G>T	XP_011536003.1:p.Gln272His
XR_427781.2:n.870G>T
XR_944338.1:n.876G>T
XR_944339.1:n.876G>T
XM_005268524.5:c.810G>T	XP_005268581.1:p.Gln270His
XM_006714803.4:c.687G>T	XP_006714866.1:p.Gln229His
XM_011537698.3:c.816G>T	XP_011536000.1:p.Gln272His
XM_011537700.3:c.816G>T	XP_011536002.1:p.Gln272His
XM_011537701.3:c.816G>T	XP_011536003.1:p.Gln272His
XM_017010013.2:c.816G>T	XP_016865502.1:p.Gln272His
XR_002956197.1:n.812G>T
XR_427781.4:n.812G>T
XR_944338.3:n.891G>T
XR_944339.3:n.891G>T
NM_033449.3:c.816G>T MANE Select	NP_258260.1:p.Gln272His