Canonical Allele Identifier: CA345439259

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671964G>C (hg19) ; chr1:g.241508664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508664G>C , CM000663.2:g.241508664G>C	GRCh38
NC_000001.10:g.241671964G>C , CM000663.1:g.241671964G>C	GRCh37
NC_000001.9:g.239738587G>C	NCBI36
NG_012338.1:g.16091C>G , LRG_504:g.16091C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1180C>G
ENST00000682162.1:c.706C>G	ENSP00000508203.1:n.706C>G
ENST00000682567.1:n.754C>G
ENST00000683521.1:c.677C>G	ENSP00000506864.1:p.Ala226Gly
ENST00000684161.1:n.1892C>G
ENST00000684483.1:c.*73C>G	ENSP00000507894.1:n.*73C>G
ENST00000366560.4:c.677C>G MANE Select	ENSP00000355518.4:p.Ala226Gly
ENST00000366560.3:c.677C>G	ENSP00000355518.3:p.Ala226Gly
NM_000143.3:c.677C>G , LRG_504t1:c.677C>G	NP_000134.2:p.Ala226Gly
XM_011544132.1:c.449C>G	XP_011542434.1:p.Ala150Gly
XM_011544132.2:c.449C>G	XP_011542434.1:p.Ala150Gly
NM_000143.4:c.677C>G MANE Select	NP_000134.2:p.Ala226Gly