Canonical Allele Identifier: CA424075818

Gene: FH

Linked Data

• dbSNP Id: rs2147916251
• MyVariant Identifiers: chr1:g.241667478G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504178G>A , CM000663.2:g.241504178G>A	GRCh38
NC_000001.10:g.241667478G>A , CM000663.1:g.241667478G>A	GRCh37
NC_000001.9:g.239734101G>A	NCBI36
NG_012338.1:g.20577C>T , LRG_504:g.20577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1475C>T
ENST00000682162.1:c.1001C>T	ENSP00000508203.1:n.1001C>T
ENST00000682567.1:n.1049C>T
ENST00000683521.1:c.972C>T	ENSP00000506864.1:p.Leu324=
ENST00000684161.1:n.2187C>T
ENST00000684483.1:c.*368C>T	ENSP00000507894.1:n.*368C>T
ENST00000366560.4:c.972C>T MANE Select	ENSP00000355518.4:p.Leu324=
ENST00000366560.3:c.972C>T	ENSP00000355518.3:p.Leu324=
NM_000143.3:c.972C>T , LRG_504t1:c.972C>T	NP_000134.2:p.Leu324=
XM_011544132.1:c.744C>T	XP_011542434.1:p.Leu248=
XM_011544132.2:c.744C>T	XP_011542434.1:p.Leu248=
NM_000143.4:c.972C>T MANE Select	NP_000134.2:p.Leu324=