Canonical Allele Identifier: CA424075837

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241667502A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504202A>C , CM000663.2:g.241504202A>C	GRCh38
NC_000001.10:g.241667502A>C , CM000663.1:g.241667502A>C	GRCh37
NC_000001.9:g.239734125A>C	NCBI36
NG_012338.1:g.20553T>G , LRG_504:g.20553T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1451T>G
ENST00000682162.1:c.977T>G	ENSP00000508203.1:n.977T>G
ENST00000682567.1:n.1025T>G
ENST00000683521.1:c.948T>G	ENSP00000506864.1:p.Ala316=
ENST00000684161.1:n.2163T>G
ENST00000684483.1:c.*344T>G	ENSP00000507894.1:n.*344T>G
ENST00000366560.4:c.948T>G MANE Select	ENSP00000355518.4:p.Ala316=
ENST00000366560.3:c.948T>G	ENSP00000355518.3:p.Ala316=
NM_000143.3:c.948T>G , LRG_504t1:c.948T>G	NP_000134.2:p.Ala316=
XM_011544132.1:c.720T>G	XP_011542434.1:p.Ala240=
XM_011544132.2:c.720T>G	XP_011542434.1:p.Ala240=
NM_000143.4:c.948T>G MANE Select	NP_000134.2:p.Ala316=