Canonical Allele Identifier: CA2580063491

Gene: FH

Linked Data

• ClinVar Variation Id: 1765675
• ClinVar RCV Id: RCV002378559 ; RCV003456287 ; RCV003774150

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504242_241504245del , CM000663.2:g.241504242_241504245del	GRCh38
NC_000001.10:g.241667542_241667545del , CM000663.1:g.241667542_241667545del	GRCh37
NC_000001.9:g.239734165_239734168del	NCBI36
NG_012338.1:g.20512_20515del , LRG_504:g.20512_20515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1410_1413del
ENST00000682162.1:c.936_939del	ENSP00000508203.1:n.936_939del
ENST00000682567.1:n.984_987del
ENST00000683521.1:c.907_910del	ENSP00000506864.1:p.Pro304LeufsTer24
ENST00000684161.1:n.2122_2125del
ENST00000684483.1:c.*303_*306del	ENSP00000507894.1:n.*303_*306del
ENST00000366560.4:c.907_910del MANE Select	ENSP00000355518.4:p.Pro304LeufsTer24
ENST00000366560.3:c.907_910del	ENSP00000355518.3:p.Pro304LeufsTer24
NM_000143.3:c.907_910del , LRG_504t1:c.907_910del	NP_000134.2:p.Pro304LeufsTer24
XM_011544132.1:c.679_682del	XP_011542434.1:p.Pro228LeufsTer24
XM_011544132.2:c.679_682del	XP_011542434.1:p.Pro228LeufsTer24
NM_000143.4:c.907_910del MANE Select	NP_000134.2:p.Pro304LeufsTer24