Canonical Allele Identifier: CA16610073
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 413613
dbSNP Id: rs1060504079

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502577G>A , CM000663.2:g.241502577G>A GRCh38
NC_000001.10:g.241665877G>A , CM000663.1:g.241665877G>A GRCh37
NC_000001.9:g.239732500G>A NCBI36
NG_012338.1:g.22178C>T , LRG_504:g.22178C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-7C>T
ENST00000682162.1:c.1138-7C>T ENSP00000508203.1:n.1138-7C>T
ENST00000682567.1:n.2650C>T
ENST00000683521.1:c.1109-7C>T ENSP00000506864.1:n.1109-7C>T
ENST00000684161.1:n.2324-7C>T
ENST00000684483.1:c.*505-7C>T ENSP00000507894.1:n.*505-7C>T
ENST00000366560.4:c.1109-7C>T MANE Select ENSP00000355518.4:n.1109-7C>T
ENST00000366560.3:c.1109-7C>T ENSP00000355518.3:n.1109-7C>T
NM_000143.3:c.1109-7C>T , LRG_504t1:c.1109-7C>T NP_000134.2:n.1109-7C>T
XM_011544132.1:c.881-7C>T XP_011542434.1:n.881-7C>T
XM_011544132.2:c.881-7C>T XP_011542434.1:n.881-7C>T
NM_000143.4:c.1109-7C>T MANE Select NP_000134.2:n.1109-7C>T