Canonical Allele Identifier: CA1587311572

Gene: FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647204C= , CM000667.2:g.141647204C=	GRCh38
NC_000005.9:g.141026771C= , CM000667.1:g.141026771C=	GRCh37
NC_000005.8:g.141006955C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.855G= MANE Select	ENSP00000399259.2:p.Leu285=
ENST00000435817.6:c.855G=	ENSP00000399259.2:p.Leu285=
ENST00000522126.5:c.627G=	ENSP00000427796.1:p.Leu209=
ENST00000522386.1:n.461G=
ENST00000522763.5:n.159G=
ENST00000522783.5:c.849G=	ENSP00000428677.1:p.Leu283=
ENST00000523856.5:n.113G=
NM_033449.2:c.855G=	NP_258260.1:p.Leu285=
XM_005268524.3:c.849G=	XP_005268581.1:p.Leu283=
XM_006714803.2:c.726G=	XP_006714866.1:p.Leu242=
XM_011537698.1:c.855G=	XP_011536000.1:p.Leu285=
XM_011537699.1:c.855G=	XP_011536001.1:p.Leu285=
XM_011537700.1:c.855G=	XP_011536002.1:p.Leu285=
XM_011537701.1:c.855G=	XP_011536003.1:p.Leu285=
XR_427781.2:n.909G=
XR_944338.1:n.915G=
XR_944339.1:n.915G=
XM_005268524.5:c.849G=	XP_005268581.1:p.Leu283=
XM_006714803.4:c.726G=	XP_006714866.1:p.Leu242=
XM_011537698.3:c.855G=	XP_011536000.1:p.Leu285=
XM_011537700.3:c.855G=	XP_011536002.1:p.Leu285=
XM_011537701.3:c.855G=	XP_011536003.1:p.Leu285=
XM_017010013.2:c.855G=	XP_016865502.1:p.Leu285=
XR_002956197.1:n.851G=
XR_427781.4:n.851G=
XR_944338.3:n.930G=
XR_944339.3:n.930G=
NM_033449.3:c.855G= MANE Select	NP_258260.1:p.Leu285=