Canonical Allele Identifier: CA3480792

Gene: FCHSD1

Linked Data

• dbSNP Id: rs758139303
• ExAC: 5:141026655 A / G
• gnomAD v2: 5-141026655-A-G
• gnomAD v4: 5-141647088-A-G
• MyVariant Identifiers: chr5:g.141026655A>G (hg19) ; chr5:g.141647088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647088A>G , CM000667.2:g.141647088A>G	GRCh38
NC_000005.9:g.141026655A>G , CM000667.1:g.141026655A>G	GRCh37
NC_000005.8:g.141006839A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.924+47T>C MANE Select	ENSP00000399259.2:n.924+47T>C
ENST00000435817.6:c.924+47T>C	ENSP00000399259.2:n.924+47T>C
ENST00000522126.5:c.696+47T>C	ENSP00000427796.1:n.696+47T>C
ENST00000522386.1:n.530+47T>C
ENST00000522763.5:n.228+47T>C
ENST00000522783.5:c.918+47T>C	ENSP00000428677.1:n.918+47T>C
ENST00000523856.5:n.182+47T>C
NM_033449.2:c.924+47T>C	NP_258260.1:n.924+47T>C
XM_005268524.3:c.918+47T>C	XP_005268581.1:n.918+47T>C
XM_006714803.2:c.795+47T>C	XP_006714866.1:n.795+47T>C
XM_011537698.1:c.924+47T>C	XP_011536000.1:n.924+47T>C
XM_011537699.1:c.924+47T>C	XP_011536001.1:n.924+47T>C
XM_011537700.1:c.924+47T>C	XP_011536002.1:n.924+47T>C
XM_011537701.1:c.924+47T>C	XP_011536003.1:n.924+47T>C
XR_427781.2:n.978+47T>C
XR_944338.1:n.984+47T>C
XR_944339.1:n.984+47T>C
XM_005268524.5:c.918+47T>C	XP_005268581.1:n.918+47T>C
XM_006714803.4:c.795+47T>C	XP_006714866.1:n.795+47T>C
XM_011537698.3:c.924+47T>C	XP_011536000.1:n.924+47T>C
XM_011537700.3:c.924+47T>C	XP_011536002.1:n.924+47T>C
XM_011537701.3:c.924+47T>C	XP_011536003.1:n.924+47T>C
XM_017010013.2:c.924+47T>C	XP_016865502.1:n.924+47T>C
XR_002956197.1:n.920+47T>C
XR_427781.4:n.920+47T>C
XR_944338.3:n.999+47T>C
XR_944339.3:n.999+47T>C
NM_033449.3:c.924+47T>C MANE Select	NP_258260.1:n.924+47T>C