Canonical Allele Identifier: CA345438334

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241667493G>T (hg19) ; chr1:g.241504193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504193G>T , CM000663.2:g.241504193G>T	GRCh38
NC_000001.10:g.241667493G>T , CM000663.1:g.241667493G>T	GRCh37
NC_000001.9:g.239734116G>T	NCBI36
NG_012338.1:g.20562C>A , LRG_504:g.20562C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1460C>A
ENST00000682162.1:c.986C>A	ENSP00000508203.1:n.986C>A
ENST00000682567.1:n.1034C>A
ENST00000683521.1:c.957C>A	ENSP00000506864.1:p.Asp319Glu
ENST00000684161.1:n.2172C>A
ENST00000684483.1:c.*353C>A	ENSP00000507894.1:n.*353C>A
ENST00000366560.4:c.957C>A MANE Select	ENSP00000355518.4:p.Asp319Glu
ENST00000366560.3:c.957C>A	ENSP00000355518.3:p.Asp319Glu
NM_000143.3:c.957C>A , LRG_504t1:c.957C>A	NP_000134.2:p.Asp319Glu
XM_011544132.1:c.729C>A	XP_011542434.1:p.Asp243Glu
XM_011544132.2:c.729C>A	XP_011542434.1:p.Asp243Glu
NM_000143.4:c.957C>A MANE Select	NP_000134.2:p.Asp319Glu