Canonical Allele Identifier: CA2651254858

Gene: FH

Linked Data

• gnomAD v4: 1-241502323-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502325del , CM000663.2:g.241502325del	GRCh38
NC_000001.10:g.241665625del , CM000663.1:g.241665625del	GRCh37
NC_000001.9:g.239732248del	NCBI36
NG_012338.1:g.22431del , LRG_504:g.22431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1739+119del
ENST00000682162.1:c.1265+119del	ENSP00000508203.1:n.1265+119del
ENST00000682567.1:n.2903del
ENST00000683521.1:c.1236+119del	ENSP00000506864.1:n.1236+119del
ENST00000684161.1:n.2451+119del
ENST00000684483.1:c.*632+119del	ENSP00000507894.1:n.*632+119del
ENST00000366560.4:c.1236+119del MANE Select	ENSP00000355518.4:n.1236+119del
ENST00000366560.3:c.1236+119del	ENSP00000355518.3:n.1236+119del
NM_000143.3:c.1236+119del , LRG_504t1:c.1236+119del	NP_000134.2:n.1236+119del
XM_011544132.1:c.1008+119del	XP_011542434.1:n.1008+119del
XM_011544132.2:c.1008+119del	XP_011542434.1:n.1008+119del
NM_000143.4:c.1236+119del MANE Select	NP_000134.2:n.1236+119del