Canonical Allele Identifier: CA361564804

Gene: FCHSD1

Linked Data

• MyVariant Identifiers: chr5:g.141027058C>G (hg19) ; chr5:g.141647491C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647491C>G , CM000667.2:g.141647491C>G	GRCh38
NC_000005.9:g.141027058C>G , CM000667.1:g.141027058C>G	GRCh37
NC_000005.8:g.141007242C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.735G>C MANE Select	ENSP00000399259.2:p.Leu245Phe
ENST00000435817.6:c.735G>C	ENSP00000399259.2:p.Leu245Phe
ENST00000522126.5:c.507G>C	ENSP00000427796.1:p.Leu169Phe
ENST00000522386.1:n.341G>C
ENST00000522763.5:n.39G>C
ENST00000522783.5:c.729G>C	ENSP00000428677.1:p.Leu243Phe
NM_033449.2:c.735G>C	NP_258260.1:p.Leu245Phe
XM_005268524.3:c.729G>C	XP_005268581.1:p.Leu243Phe
XM_006714803.2:c.606G>C	XP_006714866.1:p.Leu202Phe
XM_011537698.1:c.735G>C	XP_011536000.1:p.Leu245Phe
XM_011537699.1:c.735G>C	XP_011536001.1:p.Leu245Phe
XM_011537700.1:c.735G>C	XP_011536002.1:p.Leu245Phe
XM_011537701.1:c.735G>C	XP_011536003.1:p.Leu245Phe
XR_427781.2:n.789G>C
XR_944338.1:n.795G>C
XR_944339.1:n.795G>C
XM_005268524.5:c.729G>C	XP_005268581.1:p.Leu243Phe
XM_006714803.4:c.606G>C	XP_006714866.1:p.Leu202Phe
XM_011537698.3:c.735G>C	XP_011536000.1:p.Leu245Phe
XM_011537700.3:c.735G>C	XP_011536002.1:p.Leu245Phe
XM_011537701.3:c.735G>C	XP_011536003.1:p.Leu245Phe
XM_017010013.2:c.735G>C	XP_016865502.1:p.Leu245Phe
XR_002956197.1:n.731G>C
XR_427781.4:n.731G>C
XR_944338.3:n.810G>C
XR_944339.3:n.810G>C
NM_033449.3:c.735G>C MANE Select	NP_258260.1:p.Leu245Phe