Canonical Allele Identifier: CA361564609

Gene: FCHSD1

Linked Data

• dbSNP Id: rs1191042489
• gnomAD v2: 5-141027032-T-G
• gnomAD v4: 5-141647465-T-G
• MyVariant Identifiers: chr5:g.141027032T>G (hg19) ; chr5:g.141647465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647465T>G , CM000667.2:g.141647465T>G	GRCh38
NC_000005.9:g.141027032T>G , CM000667.1:g.141027032T>G	GRCh37
NC_000005.8:g.141007216T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.761A>C MANE Select	ENSP00000399259.2:p.His254Pro
ENST00000435817.6:c.761A>C	ENSP00000399259.2:p.His254Pro
ENST00000522126.5:c.533A>C	ENSP00000427796.1:p.His178Pro
ENST00000522386.1:n.367A>C
ENST00000522763.5:n.65A>C
ENST00000522783.5:c.755A>C	ENSP00000428677.1:p.His252Pro
ENST00000523856.5:n.19A>C
NM_033449.2:c.761A>C	NP_258260.1:p.His254Pro
XM_005268524.3:c.755A>C	XP_005268581.1:p.His252Pro
XM_006714803.2:c.632A>C	XP_006714866.1:p.His211Pro
XM_011537698.1:c.761A>C	XP_011536000.1:p.His254Pro
XM_011537699.1:c.761A>C	XP_011536001.1:p.His254Pro
XM_011537700.1:c.761A>C	XP_011536002.1:p.His254Pro
XM_011537701.1:c.761A>C	XP_011536003.1:p.His254Pro
XR_427781.2:n.815A>C
XR_944338.1:n.821A>C
XR_944339.1:n.821A>C
XM_005268524.5:c.755A>C	XP_005268581.1:p.His252Pro
XM_006714803.4:c.632A>C	XP_006714866.1:p.His211Pro
XM_011537698.3:c.761A>C	XP_011536000.1:p.His254Pro
XM_011537700.3:c.761A>C	XP_011536002.1:p.His254Pro
XM_011537701.3:c.761A>C	XP_011536003.1:p.His254Pro
XM_017010013.2:c.761A>C	XP_016865502.1:p.His254Pro
XR_002956197.1:n.757A>C
XR_427781.4:n.757A>C
XR_944338.3:n.836A>C
XR_944339.3:n.836A>C
NM_033449.3:c.761A>C MANE Select	NP_258260.1:p.His254Pro