Canonical Allele Identifier: CA361564744

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647485-G-C
• MyVariant Identifiers: chr5:g.141027052G>C (hg19) ; chr5:g.141647485G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.741C>G MANE Select	ENSP00000399259.2:p.Asp247Glu
ENST00000435817.6:c.741C>G	ENSP00000399259.2:p.Asp247Glu
ENST00000522126.5:c.513C>G	ENSP00000427796.1:p.Asp171Glu
ENST00000522386.1:n.347C>G
ENST00000522763.5:n.45C>G
ENST00000522783.5:c.735C>G	ENSP00000428677.1:p.Asp245Glu
NM_033449.2:c.741C>G	NP_258260.1:p.Asp247Glu
XM_005268524.3:c.735C>G	XP_005268581.1:p.Asp245Glu
XM_006714803.2:c.612C>G	XP_006714866.1:p.Asp204Glu
XM_011537698.1:c.741C>G	XP_011536000.1:p.Asp247Glu
XM_011537699.1:c.741C>G	XP_011536001.1:p.Asp247Glu
XM_011537700.1:c.741C>G	XP_011536002.1:p.Asp247Glu
XM_011537701.1:c.741C>G	XP_011536003.1:p.Asp247Glu
XR_427781.2:n.795C>G
XR_944338.1:n.801C>G
XR_944339.1:n.801C>G
XM_005268524.5:c.735C>G	XP_005268581.1:p.Asp245Glu
XM_006714803.4:c.612C>G	XP_006714866.1:p.Asp204Glu
XM_011537698.3:c.741C>G	XP_011536000.1:p.Asp247Glu
XM_011537700.3:c.741C>G	XP_011536002.1:p.Asp247Glu
XM_011537701.3:c.741C>G	XP_011536003.1:p.Asp247Glu
XM_017010013.2:c.741C>G	XP_016865502.1:p.Asp247Glu
XR_002956197.1:n.737C>G
XR_427781.4:n.737C>G
XR_944338.3:n.816C>G
XR_944339.3:n.816C>G
NM_033449.3:c.741C>G MANE Select	NP_258260.1:p.Asp247Glu