Canonical Allele Identifier: CA3480842

Gene: FCHSD1

Linked Data

• ClinVar Variation Id: 2385449
• ClinVar RCV Id: RCV004224167
• dbSNP Id: rs373172811
• ExAC: 5:141027026 T / G
• gnomAD v2: 5-141027026-T-G
• gnomAD v3: 5-141647459-T-G
• gnomAD v4: 5-141647459-T-G
• MyVariant Identifiers: chr5:g.141027026T>G (hg19) ; chr5:g.141647459T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647459T>G , CM000667.2:g.141647459T>G	GRCh38
NC_000005.9:g.141027026T>G , CM000667.1:g.141027026T>G	GRCh37
NC_000005.8:g.141007210T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.767A>C MANE Select	ENSP00000399259.2:p.Glu256Ala
ENST00000435817.6:c.767A>C	ENSP00000399259.2:p.Glu256Ala
ENST00000522126.5:c.539A>C	ENSP00000427796.1:p.Glu180Ala
ENST00000522386.1:n.373A>C
ENST00000522763.5:n.71A>C
ENST00000522783.5:c.761A>C	ENSP00000428677.1:p.Glu254Ala
ENST00000523856.5:n.25A>C
NM_033449.2:c.767A>C	NP_258260.1:p.Glu256Ala
XM_005268524.3:c.761A>C	XP_005268581.1:p.Glu254Ala
XM_006714803.2:c.638A>C	XP_006714866.1:p.Glu213Ala
XM_011537698.1:c.767A>C	XP_011536000.1:p.Glu256Ala
XM_011537699.1:c.767A>C	XP_011536001.1:p.Glu256Ala
XM_011537700.1:c.767A>C	XP_011536002.1:p.Glu256Ala
XM_011537701.1:c.767A>C	XP_011536003.1:p.Glu256Ala
XR_427781.2:n.821A>C
XR_944338.1:n.827A>C
XR_944339.1:n.827A>C
XM_005268524.5:c.761A>C	XP_005268581.1:p.Glu254Ala
XM_006714803.4:c.638A>C	XP_006714866.1:p.Glu213Ala
XM_011537698.3:c.767A>C	XP_011536000.1:p.Glu256Ala
XM_011537700.3:c.767A>C	XP_011536002.1:p.Glu256Ala
XM_011537701.3:c.767A>C	XP_011536003.1:p.Glu256Ala
XM_017010013.2:c.767A>C	XP_016865502.1:p.Glu256Ala
XR_002956197.1:n.763A>C
XR_427781.4:n.763A>C
XR_944338.3:n.842A>C
XR_944339.3:n.842A>C
NM_033449.3:c.767A>C MANE Select	NP_258260.1:p.Glu256Ala