Canonical Allele Identifier: CA345438415

Gene: FH

Linked Data

• ClinVar Variation Id: 954633
• ClinVar RCV Id: RCV002562620
• dbSNP Id: rs1659857390
• MyVariant Identifiers: chr1:g.241667534C>T (hg19) ; chr1:g.241504234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504234C>T , CM000663.2:g.241504234C>T	GRCh38
NC_000001.10:g.241667534C>T , CM000663.1:g.241667534C>T	GRCh37
NC_000001.9:g.239734157C>T	NCBI36
NG_012338.1:g.20521G>A , LRG_504:g.20521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1419G>A
ENST00000682162.1:c.945G>A	ENSP00000508203.1:n.945G>A
ENST00000682567.1:n.993G>A
ENST00000683521.1:c.916G>A	ENSP00000506864.1:p.Val306Ile
ENST00000684161.1:n.2131G>A
ENST00000684483.1:c.*312G>A	ENSP00000507894.1:n.*312G>A
ENST00000366560.4:c.916G>A MANE Select	ENSP00000355518.4:p.Val306Ile
ENST00000366560.3:c.916G>A	ENSP00000355518.3:p.Val306Ile
NM_000143.3:c.916G>A , LRG_504t1:c.916G>A	NP_000134.2:p.Val306Ile
XM_011544132.1:c.688G>A	XP_011542434.1:p.Val230Ile
XM_011544132.2:c.688G>A	XP_011542434.1:p.Val230Ile
NM_000143.4:c.916G>A MANE Select	NP_000134.2:p.Val306Ile