Canonical Allele Identifier: CA361562083

Gene: FCHSD1

Linked Data

• dbSNP Id: rs1432888121
• gnomAD v2: 5-141026754-C-T
• gnomAD v4: 5-141647187-C-T
• MyVariant Identifiers: chr5:g.141026754C>T (hg19) ; chr5:g.141647187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647187C>T , CM000667.2:g.141647187C>T	GRCh38
NC_000005.9:g.141026754C>T , CM000667.1:g.141026754C>T	GRCh37
NC_000005.8:g.141006938C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.872G>A MANE Select	ENSP00000399259.2:p.Gly291Asp
ENST00000435817.6:c.872G>A	ENSP00000399259.2:p.Gly291Asp
ENST00000522126.5:c.644G>A	ENSP00000427796.1:p.Gly215Asp
ENST00000522386.1:n.478G>A
ENST00000522763.5:n.176G>A
ENST00000522783.5:c.866G>A	ENSP00000428677.1:p.Gly289Asp
ENST00000523856.5:n.130G>A
NM_033449.2:c.872G>A	NP_258260.1:p.Gly291Asp
XM_005268524.3:c.866G>A	XP_005268581.1:p.Gly289Asp
XM_006714803.2:c.743G>A	XP_006714866.1:p.Gly248Asp
XM_011537698.1:c.872G>A	XP_011536000.1:p.Gly291Asp
XM_011537699.1:c.872G>A	XP_011536001.1:p.Gly291Asp
XM_011537700.1:c.872G>A	XP_011536002.1:p.Gly291Asp
XM_011537701.1:c.872G>A	XP_011536003.1:p.Gly291Asp
XR_427781.2:n.926G>A
XR_944338.1:n.932G>A
XR_944339.1:n.932G>A
XM_005268524.5:c.866G>A	XP_005268581.1:p.Gly289Asp
XM_006714803.4:c.743G>A	XP_006714866.1:p.Gly248Asp
XM_011537698.3:c.872G>A	XP_011536000.1:p.Gly291Asp
XM_011537700.3:c.872G>A	XP_011536002.1:p.Gly291Asp
XM_011537701.3:c.872G>A	XP_011536003.1:p.Gly291Asp
XM_017010013.2:c.872G>A	XP_016865502.1:p.Gly291Asp
XR_002956197.1:n.868G>A
XR_427781.4:n.868G>A
XR_944338.3:n.947G>A
XR_944339.3:n.947G>A
NM_033449.3:c.872G>A MANE Select	NP_258260.1:p.Gly291Asp