Canonical Allele Identifier: CA345438426

Gene: FH

Linked Data

• ClinVar Variation Id: 2717148
• ClinVar RCV Id: RCV003548646
• MyVariant Identifiers: chr1:g.241667540G>C (hg19) ; chr1:g.241504240G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504240G>C , CM000663.2:g.241504240G>C	GRCh38
NC_000001.10:g.241667540G>C , CM000663.1:g.241667540G>C	GRCh37
NC_000001.9:g.239734163G>C	NCBI36
NG_012338.1:g.20515C>G , LRG_504:g.20515C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1413C>G
ENST00000682162.1:c.939C>G	ENSP00000508203.1:n.939C>G
ENST00000682567.1:n.987C>G
ENST00000683521.1:c.910C>G	ENSP00000506864.1:p.Pro304Ala
ENST00000684161.1:n.2125C>G
ENST00000684483.1:c.*306C>G	ENSP00000507894.1:n.*306C>G
ENST00000366560.4:c.910C>G MANE Select	ENSP00000355518.4:p.Pro304Ala
ENST00000366560.3:c.910C>G	ENSP00000355518.3:p.Pro304Ala
NM_000143.3:c.910C>G , LRG_504t1:c.910C>G	NP_000134.2:p.Pro304Ala
XM_011544132.1:c.682C>G	XP_011542434.1:p.Pro228Ala
XM_011544132.2:c.682C>G	XP_011542434.1:p.Pro228Ala
NM_000143.4:c.910C>G MANE Select	NP_000134.2:p.Pro304Ala