Canonical Allele Identifier: CA1229580768
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs1660004011

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508917G>A , CM000663.2:g.241508917G>A GRCh38
NC_000001.10:g.241672217G>A , CM000663.1:g.241672217G>A GRCh37
NC_000001.9:g.239738840G>A NCBI36
NG_012338.1:g.15838C>T , LRG_504:g.15838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-132C>T
ENST00000682162.1:c.585-132C>T ENSP00000508203.1:n.585-132C>T
ENST00000682567.1:n.633-132C>T
ENST00000683521.1:c.556-132C>T ENSP00000506864.1:n.556-132C>T
ENST00000684161.1:n.1639C>T
ENST00000684483.1:c.556-157C>T ENSP00000507894.1:n.556-157C>T
ENST00000366560.4:c.556-132C>T MANE Select ENSP00000355518.4:n.556-132C>T
ENST00000366560.3:c.556-132C>T ENSP00000355518.3:n.556-132C>T
NM_000143.3:c.556-132C>T , LRG_504t1:c.556-132C>T NP_000134.2:n.556-132C>T
XM_011544132.1:c.328-132C>T XP_011542434.1:n.328-132C>T
XM_011544132.2:c.328-132C>T XP_011542434.1:n.328-132C>T
NM_000143.4:c.556-132C>T MANE Select NP_000134.2:n.556-132C>T