Canonical Allele Identifier: CA10609674

Gene: FH

Linked Data

• ClinVar Variation Id: 296873
• ClinVar RCV Id: RCV000311306 ; RCV000398468 ; RCV003698757
• dbSNP Id: rs886046318
• MyVariant Identifiers: chr1:g.241667550A>T (hg19) ; chr1:g.241504250A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504250A>T , CM000663.2:g.241504250A>T	GRCh38
NC_000001.10:g.241667550A>T , CM000663.1:g.241667550A>T	GRCh37
NC_000001.9:g.239734173A>T	NCBI36
NG_012338.1:g.20505T>A , LRG_504:g.20505T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1408-5T>A
ENST00000682162.1:c.934-5T>A	ENSP00000508203.1:n.934-5T>A
ENST00000682567.1:n.982-5T>A
ENST00000683521.1:c.905-5T>A	ENSP00000506864.1:n.905-5T>A
ENST00000684161.1:n.2120-5T>A
ENST00000684483.1:c.*301-5T>A	ENSP00000507894.1:n.*301-5T>A
ENST00000366560.4:c.905-5T>A MANE Select	ENSP00000355518.4:n.905-5T>A
ENST00000366560.3:c.905-5T>A	ENSP00000355518.3:n.905-5T>A
NM_000143.3:c.905-5T>A , LRG_504t1:c.905-5T>A	NP_000134.2:n.905-5T>A
XM_011544132.1:c.677-5T>A	XP_011542434.1:n.677-5T>A
XM_011544132.2:c.677-5T>A	XP_011542434.1:n.677-5T>A
NM_000143.4:c.905-5T>A MANE Select	NP_000134.2:n.905-5T>A