Canonical Allele Identifier: CA2580063483

Gene: FH

Linked Data

• ClinVar Variation Id: 2119217
• ClinVar RCV Id: RCV003032982
• gnomAD v4: 1-241504033-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504033T>A , CM000663.2:g.241504033T>A	GRCh38
NC_000001.10:g.241667333T>A , CM000663.1:g.241667333T>A	GRCh37
NC_000001.9:g.239733956T>A	NCBI36
NG_012338.1:g.20722A>T , LRG_504:g.20722A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1611+9A>T
ENST00000682162.1:c.1137+9A>T	ENSP00000508203.1:n.1137+9A>T
ENST00000682567.1:n.1194A>T
ENST00000683521.1:c.1108+9A>T	ENSP00000506864.1:n.1108+9A>T
ENST00000684161.1:n.2323+9A>T
ENST00000684483.1:c.*504+9A>T	ENSP00000507894.1:n.*504+9A>T
ENST00000366560.4:c.1108+9A>T MANE Select	ENSP00000355518.4:n.1108+9A>T
ENST00000366560.3:c.1108+9A>T	ENSP00000355518.3:n.1108+9A>T
NM_000143.3:c.1108+9A>T , LRG_504t1:c.1108+9A>T	NP_000134.2:n.1108+9A>T
XM_011544132.1:c.880+9A>T	XP_011542434.1:n.880+9A>T
XM_011544132.2:c.880+9A>T	XP_011542434.1:n.880+9A>T
NM_000143.4:c.1108+9A>T MANE Select	NP_000134.2:n.1108+9A>T