Canonical Allele Identifier: CA345440005

Gene: FH

Linked Data

• ClinVar Variation Id: 2452785
• ClinVar RCV Id: RCV003177559
• MyVariant Identifiers: chr1:g.241675340G>T (hg19) ; chr1:g.241512040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512040G>T , CM000663.2:g.241512040G>T	GRCh38
NC_000001.10:g.241675340G>T , CM000663.1:g.241675340G>T	GRCh37
NC_000001.9:g.239741963G>T	NCBI36
NG_012338.1:g.12715C>A , LRG_504:g.12715C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.985C>A
ENST00000682162.1:c.511C>A	ENSP00000508203.1:n.511C>A
ENST00000682567.1:n.559C>A
ENST00000683521.1:c.482C>A	ENSP00000506864.1:p.Ala161Glu
ENST00000684483.1:c.482C>A	ENSP00000507894.1:p.Ala161Glu
ENST00000366560.4:c.482C>A MANE Select	ENSP00000355518.4:p.Ala161Glu
ENST00000366560.3:c.482C>A	ENSP00000355518.3:p.Ala161Glu
ENST00000497042.1:n.178C>A
NM_000143.3:c.482C>A , LRG_504t1:c.482C>A	NP_000134.2:p.Ala161Glu
XM_011544132.1:c.254C>A	XP_011542434.1:p.Ala85Glu
XM_011544132.2:c.254C>A	XP_011542434.1:p.Ala85Glu
NM_000143.4:c.482C>A MANE Select	NP_000134.2:p.Ala161Glu