Canonical Allele Identifier: CA446897231
Gene: FCHSD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.141026735T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647168T>C , CM000667.2:g.141647168T>C GRCh38
NC_000005.9:g.141026735T>C , CM000667.1:g.141026735T>C GRCh37
NC_000005.8:g.141006919T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.891A>G MANE Select ENSP00000399259.2:p.Pro297=
ENST00000435817.6:c.891A>G ENSP00000399259.2:p.Pro297=
ENST00000522126.5:c.663A>G ENSP00000427796.1:p.Pro221=
ENST00000522386.1:n.497A>G
ENST00000522763.5:n.195A>G
ENST00000522783.5:c.885A>G ENSP00000428677.1:p.Pro295=
ENST00000523856.5:n.149A>G
NM_033449.2:c.891A>G NP_258260.1:p.Pro297=
XM_005268524.3:c.885A>G XP_005268581.1:p.Pro295=
XM_006714803.2:c.762A>G XP_006714866.1:p.Pro254=
XM_011537698.1:c.891A>G XP_011536000.1:p.Pro297=
XM_011537699.1:c.891A>G XP_011536001.1:p.Pro297=
XM_011537700.1:c.891A>G XP_011536002.1:p.Pro297=
XM_011537701.1:c.891A>G XP_011536003.1:p.Pro297=
XR_427781.2:n.945A>G
XR_944338.1:n.951A>G
XR_944339.1:n.951A>G
XM_005268524.5:c.885A>G XP_005268581.1:p.Pro295=
XM_006714803.4:c.762A>G XP_006714866.1:p.Pro254=
XM_011537698.3:c.891A>G XP_011536000.1:p.Pro297=
XM_011537700.3:c.891A>G XP_011536002.1:p.Pro297=
XM_011537701.3:c.891A>G XP_011536003.1:p.Pro297=
XM_017010013.2:c.891A>G XP_016865502.1:p.Pro297=
XR_002956197.1:n.887A>G
XR_427781.4:n.887A>G
XR_944338.3:n.966A>G
XR_944339.3:n.966A>G
NM_033449.3:c.891A>G MANE Select NP_258260.1:p.Pro297=