Canonical Allele Identifier: CA2580611245

Gene: FH

Linked Data

• ClinVar Variation Id: 1755842
• ClinVar RCV Id: RCV002378000
• gnomAD v4: 1-241508652-TTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508657_241508659del , CM000663.2:g.241508657_241508659del	GRCh38
NC_000001.10:g.241671957_241671959del , CM000663.1:g.241671957_241671959del	GRCh37
NC_000001.9:g.239738580_239738582del	NCBI36
NG_012338.1:g.16100_16102del , LRG_504:g.16100_16102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1189_1191del
ENST00000682162.1:c.715_717del	ENSP00000508203.1:n.715_717del
ENST00000682567.1:n.763_765del
ENST00000683521.1:c.686_688del	ENSP00000506864.1:p.Ile229del
ENST00000684161.1:n.1901_1903del
ENST00000684483.1:c.*82_*84del	ENSP00000507894.1:n.*82_*84del
ENST00000366560.4:c.686_688del MANE Select	ENSP00000355518.4:p.Ile229del
ENST00000366560.3:c.686_688del	ENSP00000355518.3:p.Ile229del
NM_000143.3:c.686_688del , LRG_504t1:c.686_688del	NP_000134.2:p.Ile229del
XM_011544132.1:c.458_460del	XP_011542434.1:p.Ile153del
XM_011544132.2:c.458_460del	XP_011542434.1:p.Ile153del
NM_000143.4:c.686_688del MANE Select	NP_000134.2:p.Ile229del