Canonical Allele Identifier: CA361562400

Gene: FCHSD1

Linked Data

• MyVariant Identifiers: chr5:g.141026789C>G (hg19) ; chr5:g.141647222C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647222C>G , CM000667.2:g.141647222C>G	GRCh38
NC_000005.9:g.141026789C>G , CM000667.1:g.141026789C>G	GRCh37
NC_000005.8:g.141006973C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.837G>C MANE Select	ENSP00000399259.2:p.Trp279Cys
ENST00000435817.6:c.837G>C	ENSP00000399259.2:p.Trp279Cys
ENST00000522126.5:c.609G>C	ENSP00000427796.1:p.Trp203Cys
ENST00000522386.1:n.443G>C
ENST00000522763.5:n.141G>C
ENST00000522783.5:c.831G>C	ENSP00000428677.1:p.Trp277Cys
ENST00000523856.5:n.95G>C
NM_033449.2:c.837G>C	NP_258260.1:p.Trp279Cys
XM_005268524.3:c.831G>C	XP_005268581.1:p.Trp277Cys
XM_006714803.2:c.708G>C	XP_006714866.1:p.Trp236Cys
XM_011537698.1:c.837G>C	XP_011536000.1:p.Trp279Cys
XM_011537699.1:c.837G>C	XP_011536001.1:p.Trp279Cys
XM_011537700.1:c.837G>C	XP_011536002.1:p.Trp279Cys
XM_011537701.1:c.837G>C	XP_011536003.1:p.Trp279Cys
XR_427781.2:n.891G>C
XR_944338.1:n.897G>C
XR_944339.1:n.897G>C
XM_005268524.5:c.831G>C	XP_005268581.1:p.Trp277Cys
XM_006714803.4:c.708G>C	XP_006714866.1:p.Trp236Cys
XM_011537698.3:c.837G>C	XP_011536000.1:p.Trp279Cys
XM_011537700.3:c.837G>C	XP_011536002.1:p.Trp279Cys
XM_011537701.3:c.837G>C	XP_011536003.1:p.Trp279Cys
XM_017010013.2:c.837G>C	XP_016865502.1:p.Trp279Cys
XR_002956197.1:n.833G>C
XR_427781.4:n.833G>C
XR_944338.3:n.912G>C
XR_944339.3:n.912G>C
NM_033449.3:c.837G>C MANE Select	NP_258260.1:p.Trp279Cys