Canonical Allele Identifier: CA2651254835

Gene: FH

Linked Data

• gnomAD v4: 1-241502294-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502294_241502295insC , CM000663.2:g.241502294_241502295insC	GRCh38
NC_000001.10:g.241665594_241665595insC , CM000663.1:g.241665594_241665595insC	GRCh37
NC_000001.9:g.239732217_239732218insC	NCBI36
NG_012338.1:g.22460_22461insG , LRG_504:g.22460_22461insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1739+148_1739+149insG
ENST00000682162.1:c.1265+148_1265+149insG	ENSP00000508203.1:n.1265+148_1265+149insG
ENST00000682567.1:n.2932_2933insG
ENST00000683521.1:c.1236+148_1236+149insG	ENSP00000506864.1:n.1236+148_1236+149insG
ENST00000684161.1:n.2451+148_2451+149insG
ENST00000684483.1:c.*632+148_*632+149insG	ENSP00000507894.1:n.*632+148_*632+149insG
ENST00000366560.4:c.1236+148_1236+149insG MANE Select	ENSP00000355518.4:n.1236+148_1236+149insG
ENST00000366560.3:c.1236+148_1236+149insG	ENSP00000355518.3:n.1236+148_1236+149insG
NM_000143.3:c.1236+148_1236+149insG , LRG_504t1:c.1236+148_1236+149insG	NP_000134.2:n.1236+148_1236+149insG
XM_011544132.1:c.1008+148_1008+149insG	XP_011542434.1:n.1008+148_1008+149insG
XM_011544132.2:c.1008+148_1008+149insG	XP_011542434.1:n.1008+148_1008+149insG
NM_000143.4:c.1236+148_1236+149insG MANE Select	NP_000134.2:n.1236+148_1236+149insG