Canonical Allele Identifier: CA1229578219
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502698T= , CM000663.2:g.241502698T= GRCh38
NC_000001.10:g.241665998T= , CM000663.1:g.241665998T= GRCh37
NC_000001.9:g.239732621T= NCBI36
NG_012338.1:g.22057A= , LRG_504:g.22057A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-128A=
ENST00000682162.1:c.1138-128A= ENSP00000508203.1:n.1138-128A=
ENST00000682567.1:n.2529A=
ENST00000683521.1:c.1109-128A= ENSP00000506864.1:n.1109-128A=
ENST00000684161.1:n.2324-128A=
ENST00000684483.1:c.*505-128A= ENSP00000507894.1:n.*505-128A=
ENST00000366560.4:c.1109-128A= MANE Select ENSP00000355518.4:n.1109-128A=
ENST00000366560.3:c.1109-128A= ENSP00000355518.3:n.1109-128A=
NM_000143.3:c.1109-128A= , LRG_504t1:c.1109-128A= NP_000134.2:n.1109-128A=
XM_011544132.1:c.881-128A= XP_011542434.1:n.881-128A=
XM_011544132.2:c.881-128A= XP_011542434.1:n.881-128A=
NM_000143.4:c.1109-128A= MANE Select NP_000134.2:n.1109-128A=