Canonical Allele Identifier: CA1229584116
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517250A= , CM000663.2:g.241517250A= GRCh38
NC_000001.10:g.241680550A= , CM000663.1:g.241680550A= GRCh37
NC_000001.9:g.239747173A= NCBI36
NG_012338.1:g.7505T= , LRG_504:g.7505T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.702T=
ENST00000682162.1:c.228T= ENSP00000508203.1:n.228T=
ENST00000682567.1:n.276T=
ENST00000683521.1:c.199T= ENSP00000506864.1:p.Tyr67=
ENST00000684483.1:c.199T= ENSP00000507894.1:p.Tyr67=
ENST00000366560.4:c.199T= MANE Select ENSP00000355518.4:p.Tyr67=
ENST00000366560.3:c.199T= ENSP00000355518.3:p.Tyr67=
ENST00000493477.1:n.312T=
NM_000143.3:c.199T= , LRG_504t1:c.199T= NP_000134.2:p.Tyr67=
XM_011544132.1:c.-30T= XP_011542434.1:n.-30T=
XM_011544132.2:c.-30T= XP_011542434.1:n.-30T=
NM_000143.4:c.199T= MANE Select NP_000134.2:p.Tyr67=