Canonical Allele Identifier: CA1229578311
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502885G= , CM000663.2:g.241502885G= GRCh38
NC_000001.10:g.241666185G= , CM000663.1:g.241666185G= GRCh37
NC_000001.9:g.239732808G= NCBI36
NG_012338.1:g.21870C= , LRG_504:g.21870C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-315C=
ENST00000682162.1:c.1138-315C= ENSP00000508203.1:n.1138-315C=
ENST00000682567.1:n.2342C=
ENST00000683521.1:c.1109-315C= ENSP00000506864.1:n.1109-315C=
ENST00000684161.1:n.2324-315C=
ENST00000684483.1:c.*505-315C= ENSP00000507894.1:n.*505-315C=
ENST00000366560.4:c.1109-315C= MANE Select ENSP00000355518.4:n.1109-315C=
ENST00000366560.3:c.1109-315C= ENSP00000355518.3:n.1109-315C=
NM_000143.3:c.1109-315C= , LRG_504t1:c.1109-315C= NP_000134.2:n.1109-315C=
XM_011544132.1:c.881-315C= XP_011542434.1:n.881-315C=
XM_011544132.2:c.881-315C= XP_011542434.1:n.881-315C=
NM_000143.4:c.1109-315C= MANE Select NP_000134.2:n.1109-315C=