Canonical Allele Identifier: CA1229580697
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508765G= , CM000663.2:g.241508765G= GRCh38
NC_000001.10:g.241672065G= , CM000663.1:g.241672065G= GRCh37
NC_000001.9:g.239738688G= NCBI36
NG_012338.1:g.15990C= , LRG_504:g.15990C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1079C=
ENST00000682162.1:c.605C= ENSP00000508203.1:n.605C=
ENST00000682567.1:n.653C=
ENST00000683521.1:c.576C= ENSP00000506864.1:p.Pro192=
ENST00000684161.1:n.1791C=
ENST00000684483.1:c.556-5C= ENSP00000507894.1:n.556-5C=
ENST00000366560.4:c.576C= MANE Select ENSP00000355518.4:p.Pro192=
ENST00000366560.3:c.576C= ENSP00000355518.3:p.Pro192=
NM_000143.3:c.576C= , LRG_504t1:c.576C= NP_000134.2:p.Pro192=
XM_011544132.1:c.348C= XP_011542434.1:p.Pro116=
XM_011544132.2:c.348C= XP_011542434.1:p.Pro116=
NM_000143.4:c.576C= MANE Select NP_000134.2:p.Pro192=