Canonical Allele Identifier: CA1229581905
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241511718T= , CM000663.2:g.241511718T= GRCh38
NC_000001.10:g.241675018T= , CM000663.1:g.241675018T= GRCh37
NC_000001.9:g.239741641T= NCBI36
NG_012338.1:g.13037A= , LRG_504:g.13037A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1058+249A=
ENST00000682162.1:c.584+249A= ENSP00000508203.1:n.584+249A=
ENST00000682567.1:n.632+249A=
ENST00000683521.1:c.555+249A= ENSP00000506864.1:n.555+249A=
ENST00000684483.1:c.555+249A= ENSP00000507894.1:n.555+249A=
ENST00000366560.4:c.555+249A= MANE Select ENSP00000355518.4:n.555+249A=
ENST00000366560.3:c.555+249A= ENSP00000355518.3:n.555+249A=
NM_000143.3:c.555+249A= , LRG_504t1:c.555+249A= NP_000134.2:n.555+249A=
XM_011544132.1:c.327+249A= XP_011542434.1:n.327+249A=
XM_011544132.2:c.327+249A= XP_011542434.1:n.327+249A=
NM_000143.4:c.555+249A= MANE Select NP_000134.2:n.555+249A=