Canonical Allele Identifier: CA345439175

Gene: FH

Linked Data

• ClinVar Variation Id: 937472
• ClinVar RCV Id: RCV002561228
• dbSNP Id: rs1349419396
• MyVariant Identifiers: chr1:g.241671920G>C (hg19) ; chr1:g.241508620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508620G>C , CM000663.2:g.241508620G>C	GRCh38
NC_000001.10:g.241671920G>C , CM000663.1:g.241671920G>C	GRCh37
NC_000001.9:g.239738543G>C	NCBI36
NG_012338.1:g.16135C>G , LRG_504:g.16135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1224C>G
ENST00000682162.1:c.750C>G	ENSP00000508203.1:n.750C>G
ENST00000682567.1:n.798C>G
ENST00000683521.1:c.721C>G	ENSP00000506864.1:p.Pro241Ala
ENST00000684161.1:n.1936C>G
ENST00000684483.1:c.*117C>G	ENSP00000507894.1:n.*117C>G
ENST00000366560.4:c.721C>G MANE Select	ENSP00000355518.4:p.Pro241Ala
ENST00000366560.3:c.721C>G	ENSP00000355518.3:p.Pro241Ala
NM_000143.3:c.721C>G , LRG_504t1:c.721C>G	NP_000134.2:p.Pro241Ala
XM_011544132.1:c.493C>G	XP_011542434.1:p.Pro165Ala
XM_011544132.2:c.493C>G	XP_011542434.1:p.Pro165Ala
NM_000143.4:c.721C>G MANE Select	NP_000134.2:p.Pro241Ala