Canonical Allele Identifier: CA2675704196

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647335-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647335C>T , CM000667.2:g.141647335C>T	GRCh38
NC_000005.9:g.141026902C>T , CM000667.1:g.141026902C>T	GRCh37
NC_000005.8:g.141007086C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.828+63G>A MANE Select	ENSP00000399259.2:n.828+63G>A
ENST00000435817.6:c.828+63G>A	ENSP00000399259.2:n.828+63G>A
ENST00000522126.5:c.600+63G>A	ENSP00000427796.1:n.600+63G>A
ENST00000522386.1:n.434+63G>A
ENST00000522763.5:n.132+63G>A
ENST00000522783.5:c.822+63G>A	ENSP00000428677.1:n.822+63G>A
ENST00000523856.5:n.86+63G>A
NM_033449.2:c.828+63G>A	NP_258260.1:n.828+63G>A
XM_005268524.3:c.822+63G>A	XP_005268581.1:n.822+63G>A
XM_006714803.2:c.699+63G>A	XP_006714866.1:n.699+63G>A
XM_011537698.1:c.828+63G>A	XP_011536000.1:n.828+63G>A
XM_011537699.1:c.828+63G>A	XP_011536001.1:n.828+63G>A
XM_011537700.1:c.828+63G>A	XP_011536002.1:n.828+63G>A
XM_011537701.1:c.828+63G>A	XP_011536003.1:n.828+63G>A
XR_427781.2:n.882+63G>A
XR_944338.1:n.888+63G>A
XR_944339.1:n.888+63G>A
XM_005268524.5:c.822+63G>A	XP_005268581.1:n.822+63G>A
XM_006714803.4:c.699+63G>A	XP_006714866.1:n.699+63G>A
XM_011537698.3:c.828+63G>A	XP_011536000.1:n.828+63G>A
XM_011537700.3:c.828+63G>A	XP_011536002.1:n.828+63G>A
XM_011537701.3:c.828+63G>A	XP_011536003.1:n.828+63G>A
XM_017010013.2:c.828+63G>A	XP_016865502.1:n.828+63G>A
XR_002956197.1:n.824+63G>A
XR_427781.4:n.824+63G>A
XR_944338.3:n.903+63G>A
XR_944339.3:n.903+63G>A
NM_033449.3:c.828+63G>A MANE Select	NP_258260.1:n.828+63G>A