Canonical Allele Identifier: CA658795656

Gene: FH

Linked Data

• ClinVar Variation Id: 503955
• ClinVar RCV Id: RCV000599039
• dbSNP Id: rs1553341337
• MyVariant Identifiers: chr1:g.241671966del (hg19) ; chr1:g.241508666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508668del , CM000663.2:g.241508668del	GRCh38
NC_000001.10:g.241671968del , CM000663.1:g.241671968del	GRCh37
NC_000001.9:g.239738591del	NCBI36
NG_012338.1:g.16089del , LRG_504:g.16089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1178del
ENST00000682162.1:c.704del	ENSP00000508203.1:n.704del
ENST00000682567.1:n.752del
ENST00000683521.1:c.675del	ENSP00000506864.1:p.Phe225LeufsTer?
ENST00000684161.1:n.1890del
ENST00000684483.1:c.*71del	ENSP00000507894.1:n.*71del
ENST00000366560.4:c.675del MANE Select	ENSP00000355518.4:p.Phe225LeufsTer?
ENST00000366560.3:c.675del	ENSP00000355518.3:p.Phe225LeufsTer?
NM_000143.3:c.675del , LRG_504t1:c.675del	NP_000134.2:p.Phe225LeufsTer?
XM_011544132.1:c.447del	XP_011542434.1:p.Phe149LeufsTer?
XM_011544132.2:c.447del	XP_011542434.1:p.Phe149LeufsTer?
NM_000143.4:c.675del MANE Select	NP_000134.2:p.Phe225LeufsTer?