Canonical Allele Identifier: CA2675704040

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647236-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647236G>T , CM000667.2:g.141647236G>T	GRCh38
NC_000005.9:g.141026803G>T , CM000667.1:g.141026803G>T	GRCh37
NC_000005.8:g.141006987G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.829-6C>A MANE Select	ENSP00000399259.2:n.829-6C>A
ENST00000435817.6:c.829-6C>A	ENSP00000399259.2:n.829-6C>A
ENST00000522126.5:c.601-6C>A	ENSP00000427796.1:n.601-6C>A
ENST00000522386.1:n.435-6C>A
ENST00000522763.5:n.133-6C>A
ENST00000522783.5:c.823-6C>A	ENSP00000428677.1:n.823-6C>A
ENST00000523856.5:n.87-6C>A
NM_033449.2:c.829-6C>A	NP_258260.1:n.829-6C>A
XM_005268524.3:c.823-6C>A	XP_005268581.1:n.823-6C>A
XM_006714803.2:c.700-6C>A	XP_006714866.1:n.700-6C>A
XM_011537698.1:c.829-6C>A	XP_011536000.1:n.829-6C>A
XM_011537699.1:c.829-6C>A	XP_011536001.1:n.829-6C>A
XM_011537700.1:c.829-6C>A	XP_011536002.1:n.829-6C>A
XM_011537701.1:c.829-6C>A	XP_011536003.1:n.829-6C>A
XR_427781.2:n.883-6C>A
XR_944338.1:n.889-6C>A
XR_944339.1:n.889-6C>A
XM_005268524.5:c.823-6C>A	XP_005268581.1:n.823-6C>A
XM_006714803.4:c.700-6C>A	XP_006714866.1:n.700-6C>A
XM_011537698.3:c.829-6C>A	XP_011536000.1:n.829-6C>A
XM_011537700.3:c.829-6C>A	XP_011536002.1:n.829-6C>A
XM_011537701.3:c.829-6C>A	XP_011536003.1:n.829-6C>A
XM_017010013.2:c.829-6C>A	XP_016865502.1:n.829-6C>A
XR_002956197.1:n.825-6C>A
XR_427781.4:n.825-6C>A
XR_944338.3:n.904-6C>A
XR_944339.3:n.904-6C>A
NM_033449.3:c.829-6C>A MANE Select	NP_258260.1:n.829-6C>A