Canonical Allele Identifier: CA16610075

Gene: FH

Linked Data

• ClinVar Variation Id: 405913
• ClinVar RCV Id: RCV001782932
• dbSNP Id: rs11545658
• MyVariant Identifiers: chr1:g.241671962G>A (hg19) ; chr1:g.241508662G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1182C>T
ENST00000682162.1:c.708C>T	ENSP00000508203.1:n.708C>T
ENST00000682567.1:n.756C>T
ENST00000683521.1:c.679C>T	ENSP00000506864.1:p.Gln227Ter
ENST00000684161.1:n.1894C>T
ENST00000684483.1:c.*75C>T	ENSP00000507894.1:n.*75C>T
ENST00000366560.4:c.679C>T MANE Select	ENSP00000355518.4:p.Gln227Ter
ENST00000366560.3:c.679C>T	ENSP00000355518.3:p.Gln227Ter
NM_000143.3:c.679C>T , LRG_504t1:c.679C>T	NP_000134.2:p.Gln227Ter
XM_011544132.1:c.451C>T	XP_011542434.1:p.Gln151Ter
XM_011544132.2:c.451C>T	XP_011542434.1:p.Gln151Ter
NM_000143.4:c.679C>T MANE Select	NP_000134.2:p.Gln227Ter