Canonical Allele Identifier: CA424075721

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241665866C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502566C>T , CM000663.2:g.241502566C>T	GRCh38
NC_000001.10:g.241665866C>T , CM000663.1:g.241665866C>T	GRCh37
NC_000001.9:g.239732489C>T	NCBI36
NG_012338.1:g.22189G>A , LRG_504:g.22189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1616G>A
ENST00000682162.1:c.1142G>A	ENSP00000508203.1:n.1142G>A
ENST00000682567.1:n.2661G>A
ENST00000683521.1:c.1113G>A	ENSP00000506864.1:p.Lys371=
ENST00000684161.1:n.2328G>A
ENST00000684483.1:c.*509G>A	ENSP00000507894.1:n.*509G>A
ENST00000366560.4:c.1113G>A MANE Select	ENSP00000355518.4:p.Lys371=
ENST00000366560.3:c.1113G>A	ENSP00000355518.3:p.Lys371=
NM_000143.3:c.1113G>A , LRG_504t1:c.1113G>A	NP_000134.2:p.Lys371=
XM_011544132.1:c.885G>A	XP_011542434.1:p.Lys295=
XM_011544132.2:c.885G>A	XP_011542434.1:p.Lys295=
NM_000143.4:c.1113G>A MANE Select	NP_000134.2:p.Lys371=