Canonical Allele Identifier: CA3480815

Gene: FCHSD1

Linked Data

• ClinVar Variation Id: 2479545
• ClinVar RCV Id: RCV003204321
• dbSNP Id: rs781558485
• ExAC: 5:141026796 A / C
• gnomAD v2: 5-141026796-A-C
• gnomAD v4: 5-141647229-A-C
• MyVariant Identifiers: chr5:g.141026796A>C (hg19) ; chr5:g.141647229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647229A>C , CM000667.2:g.141647229A>C	GRCh38
NC_000005.9:g.141026796A>C , CM000667.1:g.141026796A>C	GRCh37
NC_000005.8:g.141006980A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435817.7:c.830T>G MANE Select	ENSP00000399259.2:p.Val277Gly
ENST00000435817.6:c.830T>G	ENSP00000399259.2:p.Val277Gly
ENST00000522126.5:c.602T>G	ENSP00000427796.1:p.Val201Gly
ENST00000522386.1:n.436T>G
ENST00000522763.5:n.134T>G
ENST00000522783.5:c.824T>G	ENSP00000428677.1:p.Val275Gly
ENST00000523856.5:n.88T>G
NM_033449.2:c.830T>G	NP_258260.1:p.Val277Gly
XM_005268524.3:c.824T>G	XP_005268581.1:p.Val275Gly
XM_006714803.2:c.701T>G	XP_006714866.1:p.Val234Gly
XM_011537698.1:c.830T>G	XP_011536000.1:p.Val277Gly
XM_011537699.1:c.830T>G	XP_011536001.1:p.Val277Gly
XM_011537700.1:c.830T>G	XP_011536002.1:p.Val277Gly
XM_011537701.1:c.830T>G	XP_011536003.1:p.Val277Gly
XR_427781.2:n.884T>G
XR_944338.1:n.890T>G
XR_944339.1:n.890T>G
XM_005268524.5:c.824T>G	XP_005268581.1:p.Val275Gly
XM_006714803.4:c.701T>G	XP_006714866.1:p.Val234Gly
XM_011537698.3:c.830T>G	XP_011536000.1:p.Val277Gly
XM_011537700.3:c.830T>G	XP_011536002.1:p.Val277Gly
XM_011537701.3:c.830T>G	XP_011536003.1:p.Val277Gly
XM_017010013.2:c.830T>G	XP_016865502.1:p.Val277Gly
XR_002956197.1:n.826T>G
XR_427781.4:n.826T>G
XR_944338.3:n.905T>G
XR_944339.3:n.905T>G
NM_033449.3:c.830T>G MANE Select	NP_258260.1:p.Val277Gly