Canonical Allele Identifier: CA361561734

Gene: FCHSD1

Linked Data

• gnomAD v4: 5-141647140-C-G
• MyVariant Identifiers: chr5:g.141026707C>G (hg19) ; chr5:g.141647140C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141647140C>G , CM000667.2:g.141647140C>G	GRCh38
NC_000005.9:g.141026707C>G , CM000667.1:g.141026707C>G	GRCh37
NC_000005.8:g.141006891C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435817.7:c.919G>C MANE Select	ENSP00000399259.2:p.Asp307His
ENST00000435817.6:c.919G>C	ENSP00000399259.2:p.Asp307His
ENST00000522126.5:c.691G>C	ENSP00000427796.1:p.Asp231His
ENST00000522386.1:n.525G>C
ENST00000522763.5:n.223G>C
ENST00000522783.5:c.913G>C	ENSP00000428677.1:p.Asp305His
ENST00000523856.5:n.177G>C
NM_033449.2:c.919G>C	NP_258260.1:p.Asp307His
XM_005268524.3:c.913G>C	XP_005268581.1:p.Asp305His
XM_006714803.2:c.790G>C	XP_006714866.1:p.Asp264His
XM_011537698.1:c.919G>C	XP_011536000.1:p.Asp307His
XM_011537699.1:c.919G>C	XP_011536001.1:p.Asp307His
XM_011537700.1:c.919G>C	XP_011536002.1:p.Asp307His
XM_011537701.1:c.919G>C	XP_011536003.1:p.Asp307His
XR_427781.2:n.973G>C
XR_944338.1:n.979G>C
XR_944339.1:n.979G>C
XM_005268524.5:c.913G>C	XP_005268581.1:p.Asp305His
XM_006714803.4:c.790G>C	XP_006714866.1:p.Asp264His
XM_011537698.3:c.919G>C	XP_011536000.1:p.Asp307His
XM_011537700.3:c.919G>C	XP_011536002.1:p.Asp307His
XM_011537701.3:c.919G>C	XP_011536003.1:p.Asp307His
XM_017010013.2:c.919G>C	XP_016865502.1:p.Asp307His
XR_002956197.1:n.915G>C
XR_427781.4:n.915G>C
XR_944338.3:n.994G>C
XR_944339.3:n.994G>C
NM_033449.3:c.919G>C MANE Select	NP_258260.1:p.Asp307His