Canonical Allele Identifier: CA2521554346

Gene: FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141646895G>A , CM000667.2:g.141646895G>A	GRCh38
NC_000005.9:g.141026462G>A , CM000667.1:g.141026462G>A	GRCh37
NC_000005.8:g.141006646G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.925-173C>T MANE Select	ENSP00000399259.2:n.925-173C>T
ENST00000435817.6:c.925-173C>T	ENSP00000399259.2:n.925-173C>T
ENST00000522126.5:c.697-173C>T	ENSP00000427796.1:n.697-173C>T
ENST00000522386.1:n.531-173C>T
ENST00000522763.5:n.229-173C>T
ENST00000522783.5:c.919-173C>T	ENSP00000428677.1:n.919-173C>T
ENST00000523856.5:n.183-173C>T
NM_033449.2:c.925-173C>T	NP_258260.1:n.925-173C>T
XM_005268524.3:c.919-173C>T	XP_005268581.1:n.919-173C>T
XM_006714803.2:c.796-173C>T	XP_006714866.1:n.796-173C>T
XM_011537698.1:c.925-173C>T	XP_011536000.1:n.925-173C>T
XM_011537699.1:c.925-173C>T	XP_011536001.1:n.925-173C>T
XM_011537700.1:c.925-173C>T	XP_011536002.1:n.925-173C>T
XM_011537701.1:c.925-173C>T	XP_011536003.1:n.925-173C>T
XR_427781.2:n.979-173C>T
XR_944338.1:n.985-173C>T
XR_944339.1:n.985-173C>T
XM_005268524.5:c.919-173C>T	XP_005268581.1:n.919-173C>T
XM_006714803.4:c.796-173C>T	XP_006714866.1:n.796-173C>T
XM_011537698.3:c.925-173C>T	XP_011536000.1:n.925-173C>T
XM_011537700.3:c.925-173C>T	XP_011536002.1:n.925-173C>T
XM_011537701.3:c.925-173C>T	XP_011536003.1:n.925-173C>T
XM_017010013.2:c.925-173C>T	XP_016865502.1:n.925-173C>T
XR_002956197.1:n.921-173C>T
XR_427781.4:n.921-173C>T
XR_944338.3:n.1000-173C>T
XR_944339.3:n.1000-173C>T
NM_033449.3:c.925-173C>T MANE Select	NP_258260.1:n.925-173C>T