Canonical Allele Identifier: CA345439256

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671962G>T (hg19) ; chr1:g.241508662G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508662G>T , CM000663.2:g.241508662G>T	GRCh38
NC_000001.10:g.241671962G>T , CM000663.1:g.241671962G>T	GRCh37
NC_000001.9:g.239738585G>T	NCBI36
NG_012338.1:g.16093C>A , LRG_504:g.16093C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1182C>A
ENST00000682162.1:c.708C>A	ENSP00000508203.1:n.708C>A
ENST00000682567.1:n.756C>A
ENST00000683521.1:c.679C>A	ENSP00000506864.1:p.Gln227Lys
ENST00000684161.1:n.1894C>A
ENST00000684483.1:c.*75C>A	ENSP00000507894.1:n.*75C>A
ENST00000366560.4:c.679C>A MANE Select	ENSP00000355518.4:p.Gln227Lys
ENST00000366560.3:c.679C>A	ENSP00000355518.3:p.Gln227Lys
NM_000143.3:c.679C>A , LRG_504t1:c.679C>A	NP_000134.2:p.Gln227Lys
XM_011544132.1:c.451C>A	XP_011542434.1:p.Gln151Lys
XM_011544132.2:c.451C>A	XP_011542434.1:p.Gln151Lys
NM_000143.4:c.679C>A MANE Select	NP_000134.2:p.Gln227Lys