Canonical Allele Identifier: CA658795653

Gene: FH

Linked Data

• ClinVar Variation Id: 529809
• ClinVar RCV Id: RCV001784208
• dbSNP Id: rs1553341026
• MyVariant Identifiers: chr1:g.241667422del (hg19) ; chr1:g.241504122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504122del , CM000663.2:g.241504122del	GRCh38
NC_000001.10:g.241667422del , CM000663.1:g.241667422del	GRCh37
NC_000001.9:g.239734045del	NCBI36
NG_012338.1:g.20633del , LRG_504:g.20633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1531del
ENST00000682162.1:c.1057del	ENSP00000508203.1:n.1057del
ENST00000682567.1:n.1105del
ENST00000683521.1:c.1028del	ENSP00000506864.1:p.Arg343HisfsTer14
ENST00000684161.1:n.2243del
ENST00000684483.1:c.*424del	ENSP00000507894.1:n.*424del
ENST00000366560.4:c.1028del MANE Select	ENSP00000355518.4:p.Arg343HisfsTer14
ENST00000366560.3:c.1028del	ENSP00000355518.3:p.Arg343HisfsTer14
NM_000143.3:c.1028del , LRG_504t1:c.1028del	NP_000134.2:p.Arg343HisfsTer14
XM_011544132.1:c.800del	XP_011542434.1:p.Arg267HisfsTer14
XM_011544132.2:c.800del	XP_011542434.1:p.Arg267HisfsTer14
NM_000143.4:c.1028del MANE Select	NP_000134.2:p.Arg343HisfsTer14