Canonical Allele Identifier: CA2604914314

Gene: FCHSD1

Linked Data

• dbSNP Id: rs2154598440
• gnomAD v3: 5-141647470-C-CA
• gnomAD v4: 5-141647470-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647471dup , CM000667.2:g.141647471dup	GRCh38
NC_000005.9:g.141027038dup , CM000667.1:g.141027038dup	GRCh37
NC_000005.8:g.141007222dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.755dup MANE Select	ENSP00000399259.2:p.Ser253GlufsTer4
ENST00000435817.6:c.755dup	ENSP00000399259.2:p.Ser253GlufsTer4
ENST00000522126.5:c.527dup	ENSP00000427796.1:p.Ser177GlufsTer4
ENST00000522386.1:n.361dup
ENST00000522763.5:n.59dup
ENST00000522783.5:c.749dup	ENSP00000428677.1:p.Ser251GlufsTer4
ENST00000523856.5:n.13dup
NM_033449.2:c.755dup	NP_258260.1:p.Ser253GlufsTer4
XM_005268524.3:c.749dup	XP_005268581.1:p.Ser251GlufsTer4
XM_006714803.2:c.626dup	XP_006714866.1:p.Ser210GlufsTer4
XM_011537698.1:c.755dup	XP_011536000.1:p.Ser253GlufsTer4
XM_011537699.1:c.755dup	XP_011536001.1:p.Ser253GlufsTer4
XM_011537700.1:c.755dup	XP_011536002.1:p.Ser253GlufsTer4
XM_011537701.1:c.755dup	XP_011536003.1:p.Ser253GlufsTer4
XR_427781.2:n.809dup
XR_944338.1:n.815dup
XR_944339.1:n.815dup
XM_005268524.5:c.749dup	XP_005268581.1:p.Ser251GlufsTer4
XM_006714803.4:c.626dup	XP_006714866.1:p.Ser210GlufsTer4
XM_011537698.3:c.755dup	XP_011536000.1:p.Ser253GlufsTer4
XM_011537700.3:c.755dup	XP_011536002.1:p.Ser253GlufsTer4
XM_011537701.3:c.755dup	XP_011536003.1:p.Ser253GlufsTer4
XM_017010013.2:c.755dup	XP_016865502.1:p.Ser253GlufsTer4
XR_002956197.1:n.751dup
XR_427781.4:n.751dup
XR_944338.3:n.830dup
XR_944339.3:n.830dup
NM_033449.3:c.755dup MANE Select	NP_258260.1:p.Ser253GlufsTer4