Canonical Allele Identifier: CA2675704586

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141641167-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141641167A>C , CM000667.2:g.141641167A>C	GRCh38
NC_000005.9:g.141020734A>C , CM000667.1:g.141020734A>C	GRCh37
NC_000005.8:g.141000918A>C	NCBI36
NG_029678.1:g.690T>G
NG_029678.2:g.690T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000435817.7:c.*331T>G MANE Select	ENSP00000399259.2:n.*331T>G
ENST00000435817.6:c.*331T>G	ENSP00000399259.2:n.*331T>G
ENST00000520747.1:n.1317T>G
ENST00000522126.5:c.*961T>G	ENSP00000427796.1:n.*961T>G
ENST00000522783.5:c.*492T>G	ENSP00000428677.1:n.*492T>G
ENST00000523856.5:n.2073T>G
NM_033449.2:c.*331T>G	NP_258260.1:n.*331T>G
XM_005268524.3:c.*331T>G	XP_005268581.1:n.*331T>G
XM_006714803.2:c.*331T>G	XP_006714866.1:n.*331T>G
XM_005268524.5:c.*331T>G	XP_005268581.1:n.*331T>G
XM_006714803.4:c.*331T>G	XP_006714866.1:n.*331T>G
XM_011537698.3:c.*417T>G	XP_011536000.1:n.*417T>G
XR_002956197.1:n.2723T>G
XR_427781.4:n.2396T>G
XR_944338.3:n.2429T>G
XR_944339.3:n.2475T>G
NM_033449.3:c.*331T>G MANE Select	NP_258260.1:n.*331T>G