Canonical Allele Identifier: CA424075714

Gene: FH

Linked Data

• gnomAD v2: 1-241665854-A-T
• MyVariant Identifiers: chr1:g.241665854A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502554A>T , CM000663.2:g.241502554A>T	GRCh38
NC_000001.10:g.241665854A>T , CM000663.1:g.241665854A>T	GRCh37
NC_000001.9:g.239732477A>T	NCBI36
NG_012338.1:g.22201T>A , LRG_504:g.22201T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1628T>A
ENST00000682162.1:c.1154T>A	ENSP00000508203.1:n.1154T>A
ENST00000682567.1:n.2673T>A
ENST00000683521.1:c.1125T>A	ENSP00000506864.1:p.Thr375=
ENST00000684161.1:n.2340T>A
ENST00000684483.1:c.*521T>A	ENSP00000507894.1:n.*521T>A
ENST00000366560.4:c.1125T>A MANE Select	ENSP00000355518.4:p.Thr375=
ENST00000366560.3:c.1125T>A	ENSP00000355518.3:p.Thr375=
NM_000143.3:c.1125T>A , LRG_504t1:c.1125T>A	NP_000134.2:p.Thr375=
XM_011544132.1:c.897T>A	XP_011542434.1:p.Thr299=
XM_011544132.2:c.897T>A	XP_011542434.1:p.Thr299=
NM_000143.4:c.1125T>A MANE Select	NP_000134.2:p.Thr375=