Canonical Allele Identifier: CA40327909

Gene: FH

Linked Data

• dbSNP Id: rs201652136
• MyVariant Identifiers: chr1:g.241667440T>C (hg19) ; chr1:g.241504140T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504140T>C , CM000663.2:g.241504140T>C	GRCh38
NC_000001.10:g.241667440T>C , CM000663.1:g.241667440T>C	GRCh37
NC_000001.9:g.239734063T>C	NCBI36
NG_012338.1:g.20615A>G , LRG_504:g.20615A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1513A>G
ENST00000682162.1:c.1039A>G	ENSP00000508203.1:n.1039A>G
ENST00000682567.1:n.1087A>G
ENST00000683521.1:c.1010A>G	ENSP00000506864.1:p.Lys337Arg
ENST00000684161.1:n.2225A>G
ENST00000684483.1:c.*406A>G	ENSP00000507894.1:n.*406A>G
ENST00000366560.4:c.1010A>G MANE Select	ENSP00000355518.4:p.Lys337Arg
ENST00000366560.3:c.1010A>G	ENSP00000355518.3:p.Lys337Arg
NM_000143.3:c.1010A>G , LRG_504t1:c.1010A>G	NP_000134.2:p.Lys337Arg
XM_011544132.1:c.782A>G	XP_011542434.1:p.Lys261Arg
XM_011544132.2:c.782A>G	XP_011542434.1:p.Lys261Arg
NM_000143.4:c.1010A>G MANE Select	NP_000134.2:p.Lys337Arg