Canonical Allele Identifier: CA345438333

Gene: FH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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