Canonical Allele Identifier: CA1229581920
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241511757T= , CM000663.2:g.241511757T= GRCh38
NC_000001.10:g.241675057T= , CM000663.1:g.241675057T= GRCh37
NC_000001.9:g.239741680T= NCBI36
NG_012338.1:g.12998A= , LRG_504:g.12998A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1058+210A=
ENST00000682162.1:c.584+210A= ENSP00000508203.1:n.584+210A=
ENST00000682567.1:n.632+210A=
ENST00000683521.1:c.555+210A= ENSP00000506864.1:n.555+210A=
ENST00000684483.1:c.555+210A= ENSP00000507894.1:n.555+210A=
ENST00000366560.4:c.555+210A= MANE Select ENSP00000355518.4:n.555+210A=
ENST00000366560.3:c.555+210A= ENSP00000355518.3:n.555+210A=
NM_000143.3:c.555+210A= , LRG_504t1:c.555+210A= NP_000134.2:n.555+210A=
XM_011544132.1:c.327+210A= XP_011542434.1:n.327+210A=
XM_011544132.2:c.327+210A= XP_011542434.1:n.327+210A=
NM_000143.4:c.555+210A= MANE Select NP_000134.2:n.555+210A=