Canonical Allele Identifier: CA10581783

Gene: FH

Linked Data

• ClinVar Variation Id: 237117
• ClinVar RCV Id: RCV002518307
• dbSNP Id: rs878853695
• MyVariant Identifiers: chr1:g.241671940G>A (hg19) ; chr1:g.241508640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508640G>A , CM000663.2:g.241508640G>A	GRCh38
NC_000001.10:g.241671940G>A , CM000663.1:g.241671940G>A	GRCh37
NC_000001.9:g.239738563G>A	NCBI36
NG_012338.1:g.16115C>T , LRG_504:g.16115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1204C>T
ENST00000682162.1:c.730C>T	ENSP00000508203.1:n.730C>T
ENST00000682567.1:n.778C>T
ENST00000683521.1:c.701C>T	ENSP00000506864.1:p.Thr234Ile
ENST00000684161.1:n.1916C>T
ENST00000684483.1:c.*97C>T	ENSP00000507894.1:n.*97C>T
ENST00000366560.4:c.701C>T MANE Select	ENSP00000355518.4:p.Thr234Ile
ENST00000366560.3:c.701C>T	ENSP00000355518.3:p.Thr234Ile
NM_000143.3:c.701C>T , LRG_504t1:c.701C>T	NP_000134.2:p.Thr234Ile
XM_011544132.1:c.473C>T	XP_011542434.1:p.Thr158Ile
XM_011544132.2:c.473C>T	XP_011542434.1:p.Thr158Ile
NM_000143.4:c.701C>T MANE Select	NP_000134.2:p.Thr234Ile