Canonical Allele Identifier: CA345439136

Gene: FH

Linked Data

• dbSNP Id: rs1060500901
• MyVariant Identifiers: chr1:g.241671901A>T (hg19) ; chr1:g.241508601A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508601A>T , CM000663.2:g.241508601A>T	GRCh38
NC_000001.10:g.241671901A>T , CM000663.1:g.241671901A>T	GRCh37
NC_000001.9:g.239738524A>T	NCBI36
NG_012338.1:g.16154T>A , LRG_504:g.16154T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1241+2T>A
ENST00000682162.1:c.767+2T>A	ENSP00000508203.1:n.767+2T>A
ENST00000682567.1:n.815+2T>A
ENST00000683521.1:c.738+2T>A	ENSP00000506864.1:n.738+2T>A
ENST00000684161.1:n.1953+2T>A
ENST00000684483.1:c.*134+2T>A	ENSP00000507894.1:n.*134+2T>A
ENST00000366560.4:c.738+2T>A MANE Select	ENSP00000355518.4:n.738+2T>A
ENST00000366560.3:c.738+2T>A	ENSP00000355518.3:n.738+2T>A
NM_000143.3:c.738+2T>A , LRG_504t1:c.738+2T>A	NP_000134.2:n.738+2T>A
XM_011544132.1:c.510+2T>A	XP_011542434.1:n.510+2T>A
XM_011544132.2:c.510+2T>A	XP_011542434.1:n.510+2T>A
NM_000143.4:c.738+2T>A MANE Select	NP_000134.2:n.738+2T>A