Canonical Allele Identifier: CA733680156

Gene: FH

Linked Data

• dbSNP Id: rs1276561754
• gnomAD v3: 1-241504021-A-AT
• gnomAD v4: 1-241504021-A-AT
• MyVariant Identifiers: chr1:g.241667321_241667322insT (hg19) ; chr1:g.241504021_241504022insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504024dup , CM000663.2:g.241504024dup	GRCh38
NC_000001.10:g.241667324dup , CM000663.1:g.241667324dup	GRCh37
NC_000001.9:g.239733947dup	NCBI36
NG_012338.1:g.20733dup , LRG_504:g.20733dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1611+20dup
ENST00000682162.1:c.1137+20dup	ENSP00000508203.1:n.1137+20dup
ENST00000682567.1:n.1205dup
ENST00000683521.1:c.1108+20dup	ENSP00000506864.1:n.1108+20dup
ENST00000684161.1:n.2323+20dup
ENST00000684483.1:c.*504+20dup	ENSP00000507894.1:n.*504+20dup
ENST00000366560.4:c.1108+20dup MANE Select	ENSP00000355518.4:n.1108+20dup
ENST00000366560.3:c.1108+20dup	ENSP00000355518.3:n.1108+20dup
NM_000143.3:c.1108+20dup , LRG_504t1:c.1108+20dup	NP_000134.2:n.1108+20dup
XM_011544132.1:c.880+20dup	XP_011542434.1:n.880+20dup
XM_011544132.2:c.880+20dup	XP_011542434.1:n.880+20dup
NM_000143.4:c.1108+20dup MANE Select	NP_000134.2:n.1108+20dup