Canonical Allele Identifier: CA446897348

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647493-A-G
• MyVariant Identifiers: chr5:g.141027060A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647493A>G , CM000667.2:g.141647493A>G	GRCh38
NC_000005.9:g.141027060A>G , CM000667.1:g.141027060A>G	GRCh37
NC_000005.8:g.141007244A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.733T>C MANE Select	ENSP00000399259.2:p.Leu245=
ENST00000435817.6:c.733T>C	ENSP00000399259.2:p.Leu245=
ENST00000522126.5:c.505T>C	ENSP00000427796.1:p.Leu169=
ENST00000522386.1:n.339T>C
ENST00000522763.5:n.37T>C
ENST00000522783.5:c.727T>C	ENSP00000428677.1:p.Leu243=
NM_033449.2:c.733T>C	NP_258260.1:p.Leu245=
XM_005268524.3:c.727T>C	XP_005268581.1:p.Leu243=
XM_006714803.2:c.604T>C	XP_006714866.1:p.Leu202=
XM_011537698.1:c.733T>C	XP_011536000.1:p.Leu245=
XM_011537699.1:c.733T>C	XP_011536001.1:p.Leu245=
XM_011537700.1:c.733T>C	XP_011536002.1:p.Leu245=
XM_011537701.1:c.733T>C	XP_011536003.1:p.Leu245=
XR_427781.2:n.787T>C
XR_944338.1:n.793T>C
XR_944339.1:n.793T>C
XM_005268524.5:c.727T>C	XP_005268581.1:p.Leu243=
XM_006714803.4:c.604T>C	XP_006714866.1:p.Leu202=
XM_011537698.3:c.733T>C	XP_011536000.1:p.Leu245=
XM_011537700.3:c.733T>C	XP_011536002.1:p.Leu245=
XM_011537701.3:c.733T>C	XP_011536003.1:p.Leu245=
XM_017010013.2:c.733T>C	XP_016865502.1:p.Leu245=
XR_002956197.1:n.729T>C
XR_427781.4:n.729T>C
XR_944338.3:n.808T>C
XR_944339.3:n.808T>C
NM_033449.3:c.733T>C MANE Select	NP_258260.1:p.Leu245=