Canonical Allele Identifier: CA424075657

Gene: FH

Linked Data

• dbSNP Id: rs2147914846
• MyVariant Identifiers: chr1:g.241665764C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502464C>T , CM000663.2:g.241502464C>T	GRCh38
NC_000001.10:g.241665764C>T , CM000663.1:g.241665764C>T	GRCh37
NC_000001.9:g.239732387C>T	NCBI36
NG_012338.1:g.22291G>A , LRG_504:g.22291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1718G>A
ENST00000682162.1:c.1244G>A	ENSP00000508203.1:n.1244G>A
ENST00000682567.1:n.2763G>A
ENST00000683521.1:c.1215G>A	ENSP00000506864.1:p.Leu405=
ENST00000684161.1:n.2430G>A
ENST00000684483.1:c.*611G>A	ENSP00000507894.1:n.*611G>A
ENST00000366560.4:c.1215G>A MANE Select	ENSP00000355518.4:p.Leu405=
ENST00000366560.3:c.1215G>A	ENSP00000355518.3:p.Leu405=
NM_000143.3:c.1215G>A , LRG_504t1:c.1215G>A	NP_000134.2:p.Leu405=
XM_011544132.1:c.987G>A	XP_011542434.1:p.Leu329=
XM_011544132.2:c.987G>A	XP_011542434.1:p.Leu329=
NM_000143.4:c.1215G>A MANE Select	NP_000134.2:p.Leu405=