Canonical Allele Identifier: CA1142033870
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517255T= , CM000663.2:g.241517255T= GRCh38
NC_000001.10:g.241680555T= , CM000663.1:g.241680555T= GRCh37
NC_000001.9:g.239747178T= NCBI36
NG_012338.1:g.7500A= , LRG_504:g.7500A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.697A=
ENST00000682162.1:c.223A= ENSP00000508203.1:n.223A=
ENST00000682567.1:n.271A=
ENST00000683521.1:c.194A= ENSP00000506864.1:p.Asp65=
ENST00000684483.1:c.194A= ENSP00000507894.1:p.Asp65=
ENST00000366560.4:c.194A= MANE Select ENSP00000355518.4:p.Asp65=
ENST00000366560.3:c.194A= ENSP00000355518.3:p.Asp65=
ENST00000493477.1:n.307A=
NM_000143.3:c.194A= , LRG_504t1:c.194A= NP_000134.2:p.Asp65=
XM_011544132.1:c.-35A= XP_011542434.1:n.-35A=
XM_011544132.2:c.-35A= XP_011542434.1:n.-35A=
NM_000143.4:c.194A= MANE Select NP_000134.2:p.Asp65=