Canonical Allele Identifier: CA345439313

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671991G>T (hg19) ; chr1:g.241508691G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508691G>T , CM000663.2:g.241508691G>T	GRCh38
NC_000001.10:g.241671991G>T , CM000663.1:g.241671991G>T	GRCh37
NC_000001.9:g.239738614G>T	NCBI36
NG_012338.1:g.16064C>A , LRG_504:g.16064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1153C>A
ENST00000682162.1:c.679C>A	ENSP00000508203.1:n.679C>A
ENST00000682567.1:n.727C>A
ENST00000683521.1:c.650C>A	ENSP00000506864.1:p.Ala217Asp
ENST00000684161.1:n.1865C>A
ENST00000684483.1:c.*46C>A	ENSP00000507894.1:n.*46C>A
ENST00000366560.4:c.650C>A MANE Select	ENSP00000355518.4:p.Ala217Asp
ENST00000366560.3:c.650C>A	ENSP00000355518.3:p.Ala217Asp
NM_000143.3:c.650C>A , LRG_504t1:c.650C>A	NP_000134.2:p.Ala217Asp
XM_011544132.1:c.422C>A	XP_011542434.1:p.Ala141Asp
XM_011544132.2:c.422C>A	XP_011542434.1:p.Ala141Asp
NM_000143.4:c.650C>A MANE Select	NP_000134.2:p.Ala217Asp