Canonical Allele Identifier: CA361564099

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647405-G-A
• MyVariant Identifiers: chr5:g.141026972G>A (hg19) ; chr5:g.141647405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647405G>A , CM000667.2:g.141647405G>A	GRCh38
NC_000005.9:g.141026972G>A , CM000667.1:g.141026972G>A	GRCh37
NC_000005.8:g.141007156G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.821C>T MANE Select	ENSP00000399259.2:p.Thr274Ile
ENST00000435817.6:c.821C>T	ENSP00000399259.2:p.Thr274Ile
ENST00000522126.5:c.593C>T	ENSP00000427796.1:p.Thr198Ile
ENST00000522386.1:n.427C>T
ENST00000522763.5:n.125C>T
ENST00000522783.5:c.815C>T	ENSP00000428677.1:p.Thr272Ile
ENST00000523856.5:n.79C>T
NM_033449.2:c.821C>T	NP_258260.1:p.Thr274Ile
XM_005268524.3:c.815C>T	XP_005268581.1:p.Thr272Ile
XM_006714803.2:c.692C>T	XP_006714866.1:p.Thr231Ile
XM_011537698.1:c.821C>T	XP_011536000.1:p.Thr274Ile
XM_011537699.1:c.821C>T	XP_011536001.1:p.Thr274Ile
XM_011537700.1:c.821C>T	XP_011536002.1:p.Thr274Ile
XM_011537701.1:c.821C>T	XP_011536003.1:p.Thr274Ile
XR_427781.2:n.875C>T
XR_944338.1:n.881C>T
XR_944339.1:n.881C>T
XM_005268524.5:c.815C>T	XP_005268581.1:p.Thr272Ile
XM_006714803.4:c.692C>T	XP_006714866.1:p.Thr231Ile
XM_011537698.3:c.821C>T	XP_011536000.1:p.Thr274Ile
XM_011537700.3:c.821C>T	XP_011536002.1:p.Thr274Ile
XM_011537701.3:c.821C>T	XP_011536003.1:p.Thr274Ile
XM_017010013.2:c.821C>T	XP_016865502.1:p.Thr274Ile
XR_002956197.1:n.817C>T
XR_427781.4:n.817C>T
XR_944338.3:n.896C>T
XR_944339.3:n.896C>T
NM_033449.3:c.821C>T MANE Select	NP_258260.1:p.Thr274Ile