Canonical Allele Identifier: CA424075730

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241667343T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504043T>A , CM000663.2:g.241504043T>A	GRCh38
NC_000001.10:g.241667343T>A , CM000663.1:g.241667343T>A	GRCh37
NC_000001.9:g.239733966T>A	NCBI36
NG_012338.1:g.20712A>T , LRG_504:g.20712A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1610A>T
ENST00000682162.1:c.1136A>T	ENSP00000508203.1:n.1136A>T
ENST00000682567.1:n.1184A>T
ENST00000683521.1:c.1107A>T	ENSP00000506864.1:p.Pro369=
ENST00000684161.1:n.2322A>T
ENST00000684483.1:c.*503A>T	ENSP00000507894.1:n.*503A>T
ENST00000366560.4:c.1107A>T MANE Select	ENSP00000355518.4:p.Pro369=
ENST00000366560.3:c.1107A>T	ENSP00000355518.3:p.Pro369=
NM_000143.3:c.1107A>T , LRG_504t1:c.1107A>T	NP_000134.2:p.Pro369=
XM_011544132.1:c.879A>T	XP_011542434.1:p.Pro293=
XM_011544132.2:c.879A>T	XP_011542434.1:p.Pro293=
NM_000143.4:c.1107A>T MANE Select	NP_000134.2:p.Pro369=