Canonical Allele Identifier: CA1478651
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508787T>A , CM000663.2:g.241508787T>A GRCh38
NC_000001.10:g.241672087T>A , CM000663.1:g.241672087T>A GRCh37
NC_000001.9:g.239738710T>A NCBI36
NG_012338.1:g.15968A>T , LRG_504:g.15968A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-2A>T
ENST00000682162.1:c.585-2A>T ENSP00000508203.1:n.585-2A>T
ENST00000682567.1:n.633-2A>T
ENST00000683521.1:c.556-2A>T ENSP00000506864.1:n.556-2A>T
ENST00000684161.1:n.1769A>T
ENST00000684483.1:c.556-27A>T ENSP00000507894.1:n.556-27A>T
ENST00000366560.4:c.556-2A>T MANE Select ENSP00000355518.4:n.556-2A>T
ENST00000366560.3:c.556-2A>T ENSP00000355518.3:n.556-2A>T
NM_000143.3:c.556-2A>T , LRG_504t1:c.556-2A>T NP_000134.2:n.556-2A>T
XM_011544132.1:c.328-2A>T XP_011542434.1:n.328-2A>T
XM_011544132.2:c.328-2A>T XP_011542434.1:n.328-2A>T
NM_000143.4:c.556-2A>T MANE Select NP_000134.2:n.556-2A>T