Canonical Allele Identifier: CA2697547769

Gene: FH

Linked Data

• ClinVar Variation Id: 2756957
• ClinVar RCV Id: RCV003567026

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504135del , CM000663.2:g.241504135del	GRCh38
NC_000001.10:g.241667435del , CM000663.1:g.241667435del	GRCh37
NC_000001.9:g.239734058del	NCBI36
NG_012338.1:g.20620del , LRG_504:g.20620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1518del
ENST00000682162.1:c.1044del	ENSP00000508203.1:n.1044del
ENST00000682567.1:n.1092del
ENST00000683521.1:c.1015del	ENSP00000506864.1:p.Ala339GlnfsTer18
ENST00000684161.1:n.2230del
ENST00000684483.1:c.*411del	ENSP00000507894.1:n.*411del
ENST00000366560.4:c.1015del MANE Select	ENSP00000355518.4:p.Ala339GlnfsTer18
ENST00000366560.3:c.1015del	ENSP00000355518.3:p.Ala339GlnfsTer18
NM_000143.3:c.1015del , LRG_504t1:c.1015del	NP_000134.2:p.Ala339GlnfsTer18
XM_011544132.1:c.787del	XP_011542434.1:p.Ala263GlnfsTer18
XM_011544132.2:c.787del	XP_011542434.1:p.Ala263GlnfsTer18
NM_000143.4:c.1015del MANE Select	NP_000134.2:p.Ala339GlnfsTer18