Canonical Allele Identifier: CA1144229324
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517258T= , CM000663.2:g.241517258T= GRCh38
NC_000001.10:g.241680558T= , CM000663.1:g.241680558T= GRCh37
NC_000001.9:g.239747181T= NCBI36
NG_012338.1:g.7497A= , LRG_504:g.7497A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.694A=
ENST00000682162.1:c.220A= ENSP00000508203.1:n.220A=
ENST00000682567.1:n.268A=
ENST00000683521.1:c.191A= ENSP00000506864.1:p.Asn64=
ENST00000684483.1:c.191A= ENSP00000507894.1:p.Asn64=
ENST00000366560.4:c.191A= MANE Select ENSP00000355518.4:p.Asn64=
ENST00000366560.3:c.191A= ENSP00000355518.3:p.Asn64=
ENST00000493477.1:n.304A=
NM_000143.3:c.191A= , LRG_504t1:c.191A= NP_000134.2:p.Asn64=
XM_011544132.1:c.-38A= XP_011542434.1:n.-38A=
XM_011544132.2:c.-38A= XP_011542434.1:n.-38A=
NM_000143.4:c.191A= MANE Select NP_000134.2:p.Asn64=