Canonical Allele Identifier: CA891843176

Gene: FH

Linked Data

• ClinVar Variation Id: 578880
• ClinVar RCV Id: RCV002536351
• dbSNP Id: rs1558397011
• MyVariant Identifiers: chr1:g.241665774del (hg19) ; chr1:g.241502474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502474del , CM000663.2:g.241502474del	GRCh38
NC_000001.10:g.241665774del , CM000663.1:g.241665774del	GRCh37
NC_000001.9:g.239732397del	NCBI36
NG_012338.1:g.22281del , LRG_504:g.22281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1708del
ENST00000682162.1:c.1234del	ENSP00000508203.1:n.1234del
ENST00000682567.1:n.2753del
ENST00000683521.1:c.1205del	ENSP00000506864.1:p.His402LeufsTer4
ENST00000684161.1:n.2420del
ENST00000684483.1:c.*601del	ENSP00000507894.1:n.*601del
ENST00000366560.4:c.1205del MANE Select	ENSP00000355518.4:p.His402LeufsTer4
ENST00000366560.3:c.1205del	ENSP00000355518.3:p.His402LeufsTer4
NM_000143.3:c.1205del , LRG_504t1:c.1205del	NP_000134.2:p.His402LeufsTer4
XM_011544132.1:c.977del	XP_011542434.1:p.His326LeufsTer4
XM_011544132.2:c.977del	XP_011542434.1:p.His326LeufsTer4
NM_000143.4:c.1205del MANE Select	NP_000134.2:p.His402LeufsTer4