Canonical Allele Identifier: CA1229578891

Gene: FH

Linked Data

• dbSNP Id: rs1659859956
• gnomAD v4: 1-241504310-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504312del , CM000663.2:g.241504312del	GRCh38
NC_000001.10:g.241667612del , CM000663.1:g.241667612del	GRCh37
NC_000001.9:g.239734235del	NCBI36
NG_012338.1:g.20444del , LRG_504:g.20444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-66del
ENST00000682162.1:c.934-66del	ENSP00000508203.1:n.934-66del
ENST00000682567.1:n.982-66del
ENST00000683521.1:c.905-66del	ENSP00000506864.1:n.905-66del
ENST00000684161.1:n.2120-66del
ENST00000684483.1:c.*301-66del	ENSP00000507894.1:n.*301-66del
ENST00000366560.4:c.905-66del MANE Select	ENSP00000355518.4:n.905-66del
ENST00000366560.3:c.905-66del	ENSP00000355518.3:n.905-66del
NM_000143.3:c.905-66del , LRG_504t1:c.905-66del	NP_000134.2:n.905-66del
XM_011544132.1:c.677-66del	XP_011542434.1:n.677-66del
XM_011544132.2:c.677-66del	XP_011542434.1:n.677-66del
NM_000143.4:c.905-66del MANE Select	NP_000134.2:n.905-66del