Canonical Allele Identifier: CA361564516

Gene: FCHSD1

Linked Data

• MyVariant Identifiers: chr5:g.141027023A>C (hg19) ; chr5:g.141647456A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647456A>C , CM000667.2:g.141647456A>C	GRCh38
NC_000005.9:g.141027023A>C , CM000667.1:g.141027023A>C	GRCh37
NC_000005.8:g.141007207A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.770T>G MANE Select	ENSP00000399259.2:p.Leu257Arg
ENST00000435817.6:c.770T>G	ENSP00000399259.2:p.Leu257Arg
ENST00000522126.5:c.542T>G	ENSP00000427796.1:p.Leu181Arg
ENST00000522386.1:n.376T>G
ENST00000522763.5:n.74T>G
ENST00000522783.5:c.764T>G	ENSP00000428677.1:p.Leu255Arg
ENST00000523856.5:n.28T>G
NM_033449.2:c.770T>G	NP_258260.1:p.Leu257Arg
XM_005268524.3:c.764T>G	XP_005268581.1:p.Leu255Arg
XM_006714803.2:c.641T>G	XP_006714866.1:p.Leu214Arg
XM_011537698.1:c.770T>G	XP_011536000.1:p.Leu257Arg
XM_011537699.1:c.770T>G	XP_011536001.1:p.Leu257Arg
XM_011537700.1:c.770T>G	XP_011536002.1:p.Leu257Arg
XM_011537701.1:c.770T>G	XP_011536003.1:p.Leu257Arg
XR_427781.2:n.824T>G
XR_944338.1:n.830T>G
XR_944339.1:n.830T>G
XM_005268524.5:c.764T>G	XP_005268581.1:p.Leu255Arg
XM_006714803.4:c.641T>G	XP_006714866.1:p.Leu214Arg
XM_011537698.3:c.770T>G	XP_011536000.1:p.Leu257Arg
XM_011537700.3:c.770T>G	XP_011536002.1:p.Leu257Arg
XM_011537701.3:c.770T>G	XP_011536003.1:p.Leu257Arg
XM_017010013.2:c.770T>G	XP_016865502.1:p.Leu257Arg
XR_002956197.1:n.766T>G
XR_427781.4:n.766T>G
XR_944338.3:n.845T>G
XR_944339.3:n.845T>G
NM_033449.3:c.770T>G MANE Select	NP_258260.1:p.Leu257Arg