Canonical Allele Identifier: CA40328147

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241506054T>C , CM000663.2:g.241506054T>C	GRCh38
NC_000001.10:g.241669354T>C , CM000663.1:g.241669354T>C	GRCh37
NC_000001.9:g.239735977T>C	NCBI36
NG_012338.1:g.18701A>G , LRG_504:g.18701A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.853A>G MANE Select	NP_000134.2:p.Thr285Ala
ENST00000366560.4:c.853A>G MANE Select	ENSP00000355518.4:p.Thr285Ala
NM_000143.3:c.853A>G , LRG_504t1:c.853A>G	NP_000134.2:p.Thr285Ala
ENST00000366560.3:c.853A>G	ENSP00000355518.3:p.Thr285Ala
ENST00000493477.2:n.1356A>G
ENST00000682162.1:c.882A>G	ENSP00000508203.1:n.882A>G
ENST00000682567.1:n.930A>G
ENST00000683521.1:c.853A>G	ENSP00000506864.1:p.Thr285Ala
ENST00000684161.1:n.2068A>G
ENST00000684483.1:c.*249A>G	ENSP00000507894.1:n.*249A>G
XM_011544132.1:c.625A>G	XP_011542434.1:p.Thr209Ala
XM_011544132.2:c.625A>G	XP_011542434.1:p.Thr209Ala