Canonical Allele Identifier: CA345438421

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241667537A>C (hg19) ; chr1:g.241504237A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504237A>C , CM000663.2:g.241504237A>C	GRCh38
NC_000001.10:g.241667537A>C , CM000663.1:g.241667537A>C	GRCh37
NC_000001.9:g.239734160A>C	NCBI36
NG_012338.1:g.20518T>G , LRG_504:g.20518T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1416T>G
ENST00000682162.1:c.942T>G	ENSP00000508203.1:n.942T>G
ENST00000682567.1:n.990T>G
ENST00000683521.1:c.913T>G	ENSP00000506864.1:p.Phe305Val
ENST00000684161.1:n.2128T>G
ENST00000684483.1:c.*309T>G	ENSP00000507894.1:n.*309T>G
ENST00000366560.4:c.913T>G MANE Select	ENSP00000355518.4:p.Phe305Val
ENST00000366560.3:c.913T>G	ENSP00000355518.3:p.Phe305Val
NM_000143.3:c.913T>G , LRG_504t1:c.913T>G	NP_000134.2:p.Phe305Val
XM_011544132.1:c.685T>G	XP_011542434.1:p.Phe229Val
XM_011544132.2:c.685T>G	XP_011542434.1:p.Phe229Val
NM_000143.4:c.913T>G MANE Select	NP_000134.2:p.Phe305Val