Canonical Allele Identifier: CA1587312125

Gene: FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647485G= , CM000667.2:g.141647485G=	GRCh38
NC_000005.9:g.141027052G= , CM000667.1:g.141027052G=	GRCh37
NC_000005.8:g.141007236G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.741C= MANE Select	ENSP00000399259.2:p.Asp247=
ENST00000435817.6:c.741C=	ENSP00000399259.2:p.Asp247=
ENST00000522126.5:c.513C=	ENSP00000427796.1:p.Asp171=
ENST00000522386.1:n.347C=
ENST00000522763.5:n.45C=
ENST00000522783.5:c.735C=	ENSP00000428677.1:p.Asp245=
NM_033449.2:c.741C=	NP_258260.1:p.Asp247=
XM_005268524.3:c.735C=	XP_005268581.1:p.Asp245=
XM_006714803.2:c.612C=	XP_006714866.1:p.Asp204=
XM_011537698.1:c.741C=	XP_011536000.1:p.Asp247=
XM_011537699.1:c.741C=	XP_011536001.1:p.Asp247=
XM_011537700.1:c.741C=	XP_011536002.1:p.Asp247=
XM_011537701.1:c.741C=	XP_011536003.1:p.Asp247=
XR_427781.2:n.795C=
XR_944338.1:n.801C=
XR_944339.1:n.801C=
XM_005268524.5:c.735C=	XP_005268581.1:p.Asp245=
XM_006714803.4:c.612C=	XP_006714866.1:p.Asp204=
XM_011537698.3:c.741C=	XP_011536000.1:p.Asp247=
XM_011537700.3:c.741C=	XP_011536002.1:p.Asp247=
XM_011537701.3:c.741C=	XP_011536003.1:p.Asp247=
XM_017010013.2:c.741C=	XP_016865502.1:p.Asp247=
XR_002956197.1:n.737C=
XR_427781.4:n.737C=
XR_944338.3:n.816C=
XR_944339.3:n.816C=
NM_033449.3:c.741C= MANE Select	NP_258260.1:p.Asp247=