Canonical Allele Identifier: CA16610056
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 405921
dbSNP Id: rs1060500901

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508601A>G , CM000663.2:g.241508601A>G GRCh38
NC_000001.10:g.241671901A>G , CM000663.1:g.241671901A>G GRCh37
NC_000001.9:g.239738524A>G NCBI36
NG_012338.1:g.16154T>C , LRG_504:g.16154T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1241+2T>C
ENST00000682162.1:c.767+2T>C ENSP00000508203.1:n.767+2T>C
ENST00000682567.1:n.815+2T>C
ENST00000683521.1:c.738+2T>C ENSP00000506864.1:n.738+2T>C
ENST00000684161.1:n.1953+2T>C
ENST00000684483.1:c.*134+2T>C ENSP00000507894.1:n.*134+2T>C
ENST00000366560.4:c.738+2T>C MANE Select ENSP00000355518.4:n.738+2T>C
ENST00000366560.3:c.738+2T>C ENSP00000355518.3:n.738+2T>C
NM_000143.3:c.738+2T>C , LRG_504t1:c.738+2T>C NP_000134.2:n.738+2T>C
XM_011544132.1:c.510+2T>C XP_011542434.1:n.510+2T>C
XM_011544132.2:c.510+2T>C XP_011542434.1:n.510+2T>C
NM_000143.4:c.738+2T>C MANE Select NP_000134.2:n.738+2T>C