Canonical Allele Identifier: CA361564717

Gene: FCHSD1

Linked Data

• MyVariant Identifiers: chr5:g.141027048G>C (hg19) ; chr5:g.141647481G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647481G>C , CM000667.2:g.141647481G>C	GRCh38
NC_000005.9:g.141027048G>C , CM000667.1:g.141027048G>C	GRCh37
NC_000005.8:g.141007232G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.745C>G MANE Select	ENSP00000399259.2:p.Leu249Val
ENST00000435817.6:c.745C>G	ENSP00000399259.2:p.Leu249Val
ENST00000522126.5:c.517C>G	ENSP00000427796.1:p.Leu173Val
ENST00000522386.1:n.351C>G
ENST00000522763.5:n.49C>G
ENST00000522783.5:c.739C>G	ENSP00000428677.1:p.Leu247Val
ENST00000523856.5:n.3C>G
NM_033449.2:c.745C>G	NP_258260.1:p.Leu249Val
XM_005268524.3:c.739C>G	XP_005268581.1:p.Leu247Val
XM_006714803.2:c.616C>G	XP_006714866.1:p.Leu206Val
XM_011537698.1:c.745C>G	XP_011536000.1:p.Leu249Val
XM_011537699.1:c.745C>G	XP_011536001.1:p.Leu249Val
XM_011537700.1:c.745C>G	XP_011536002.1:p.Leu249Val
XM_011537701.1:c.745C>G	XP_011536003.1:p.Leu249Val
XR_427781.2:n.799C>G
XR_944338.1:n.805C>G
XR_944339.1:n.805C>G
XM_005268524.5:c.739C>G	XP_005268581.1:p.Leu247Val
XM_006714803.4:c.616C>G	XP_006714866.1:p.Leu206Val
XM_011537698.3:c.745C>G	XP_011536000.1:p.Leu249Val
XM_011537700.3:c.745C>G	XP_011536002.1:p.Leu249Val
XM_011537701.3:c.745C>G	XP_011536003.1:p.Leu249Val
XM_017010013.2:c.745C>G	XP_016865502.1:p.Leu249Val
XR_002956197.1:n.741C>G
XR_427781.4:n.741C>G
XR_944338.3:n.820C>G
XR_944339.3:n.820C>G
NM_033449.3:c.745C>G MANE Select	NP_258260.1:p.Leu249Val