Canonical Allele Identifier: CA1229576197
Community Standard Title: NM_000143.4(FH):c.1391-1G=
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241497971C= , CM000663.2:g.241497971C= GRCh38
NC_000001.10:g.241661271C= , CM000663.1:g.241661271C= GRCh37
NC_000001.9:g.239727894C= NCBI36
NG_012338.1:g.26784G= , LRG_504:g.26784G=

Transcript Alleles

HGVS Amino-acid Change
NM_000143.4:c.1391-1G= MANE Select NP_000134.2:n.1391-1G=
ENST00000366560.4:c.1391-1G= MANE Select ENSP00000355518.4:n.1391-1G=
NM_000143.3:c.1391-1G= , LRG_504t1:c.1391-1G= NP_000134.2:n.1391-1G=
ENST00000366560.3:c.1391-1G= ENSP00000355518.3:n.1391-1G=
ENST00000493477.2:n.1894-1G=
ENST00000682162.1:c.1420-1G= ENSP00000508203.1:n.1420-1G=
ENST00000682567.1:n.4791-1G=
ENST00000684161.1:n.2606-1G=
ENST00000684483.1:c.*787-1G= ENSP00000507894.1:n.*787-1G=
XM_011544132.1:c.1163-1G= XP_011542434.1:n.1163-1G=
XM_011544132.2:c.1163-1G= XP_011542434.1:n.1163-1G=