Canonical Allele Identifier: CA15409120

Gene: FCHSD1

Linked Data

• dbSNP Id: rs251177
• gnomAD: 5:141026884 T / C
• MyVariant Identifiers: chr5:g.141026884T>C (hg19) ; chr5:g.141647317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647317T>C , CM000667.2:g.141647317T>C	GRCh38
NC_000005.9:g.141026884T>C , CM000667.1:g.141026884T>C	GRCh37
NC_000005.8:g.141007068T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435817.6:c.828+81A>G	ENSP00000399259.2:p.=
ENST00000522126.5:c.600+81A>G	ENSP00000427796.1:p.=
ENST00000522783.5:c.822+81A>G	ENSP00000428677.1:p.=
NM_033449.2:c.828+81A>G	NP_258260.1:p.=
XM_005268524.3:c.822+81A>G	XP_005268581.1:p.=
XM_006714803.2:c.699+81A>G	XP_006714866.1:p.=
XM_011537698.1:c.828+81A>G	XP_011536000.1:p.=
XM_011537699.1:c.828+81A>G	XP_011536001.1:p.=
XM_011537700.1:c.828+81A>G	XP_011536002.1:p.=
XM_011537701.1:c.828+81A>G	XP_011536003.1:p.=
XM_005268524.5:c.822+81A>G	XP_005268581.1:p.=
XM_006714803.4:c.699+81A>G	XP_006714866.1:p.=
XM_011537698.3:c.828+81A>G	XP_011536000.1:p.=
XM_011537700.3:c.828+81A>G	XP_011536002.1:p.=
XM_011537701.3:c.828+81A>G	XP_011536003.1:p.=
XM_017010013.2:c.828+81A>G	XP_016865502.1:p.=
NM_033449.3:c.828+81A>G MANE Select	NP_258260.1:p.=