Canonical Allele Identifier: CA345440216

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241675435T>A (hg19) ; chr1:g.241512135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512135T>A , CM000663.2:g.241512135T>A	GRCh38
NC_000001.10:g.241675435T>A , CM000663.1:g.241675435T>A	GRCh37
NC_000001.9:g.239742058T>A	NCBI36
NG_012338.1:g.12620A>T , LRG_504:g.12620A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.890A>T
ENST00000682162.1:c.416A>T	ENSP00000508203.1:n.416A>T
ENST00000682567.1:n.464A>T
ENST00000683521.1:c.387A>T	ENSP00000506864.1:p.Glu129Asp
ENST00000684483.1:c.387A>T	ENSP00000507894.1:p.Glu129Asp
ENST00000366560.4:c.387A>T MANE Select	ENSP00000355518.4:p.Glu129Asp
ENST00000366560.3:c.387A>T	ENSP00000355518.3:p.Glu129Asp
ENST00000497042.1:n.83A>T
NM_000143.3:c.387A>T , LRG_504t1:c.387A>T	NP_000134.2:p.Glu129Asp
XM_011544132.1:c.159A>T	XP_011542434.1:p.Glu53Asp
XM_011544132.2:c.159A>T	XP_011542434.1:p.Glu53Asp
NM_000143.4:c.387A>T MANE Select	NP_000134.2:p.Glu129Asp