Canonical Allele Identifier: CA913410902

Gene: FH

Linked Data

• dbSNP Id: rs1558399242
• gnomAD v2: 1-241671815-GC-G
• gnomAD v3: 1-241508515-GC-G
• gnomAD v4: 1-241508515-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508517del , CM000663.2:g.241508517del	GRCh38
NC_000001.10:g.241671817del , CM000663.1:g.241671817del	GRCh37
NC_000001.9:g.239738440del	NCBI36
NG_012338.1:g.16239del , LRG_504:g.16239del

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1241+87del
ENST00000682162.1:c.767+87del	ENSP00000508203.1:n.767+87del
ENST00000682567.1:n.815+87del
ENST00000683521.1:c.738+87del	ENSP00000506864.1:n.738+87del
ENST00000684161.1:n.1953+87del
ENST00000684483.1:c.*134+87del	ENSP00000507894.1:n.*134+87del
ENST00000366560.4:c.738+87del MANE Select	ENSP00000355518.4:n.738+87del
ENST00000366560.3:c.738+87del	ENSP00000355518.3:n.738+87del
NM_000143.3:c.738+87del , LRG_504t1:c.738+87del	NP_000134.2:n.738+87del
XM_011544132.1:c.510+87del	XP_011542434.1:n.510+87del
XM_011544132.2:c.510+87del	XP_011542434.1:n.510+87del
NM_000143.4:c.738+87del MANE Select	NP_000134.2:n.738+87del