Canonical Allele Identifier: CA2698168660
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs1173896774

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502639C>G , CM000663.2:g.241502639C>G GRCh38
NC_000001.10:g.241665939C>G , CM000663.1:g.241665939C>G GRCh37
NC_000001.9:g.239732562C>G NCBI36
NG_012338.1:g.22116G>C , LRG_504:g.22116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-69G>C
ENST00000682162.1:c.1138-69G>C ENSP00000508203.1:n.1138-69G>C
ENST00000682567.1:n.2588G>C
ENST00000683521.1:c.1109-69G>C ENSP00000506864.1:n.1109-69G>C
ENST00000684161.1:n.2324-69G>C
ENST00000684483.1:c.*505-69G>C ENSP00000507894.1:n.*505-69G>C
ENST00000366560.4:c.1109-69G>C MANE Select ENSP00000355518.4:n.1109-69G>C
ENST00000366560.3:c.1109-69G>C ENSP00000355518.3:n.1109-69G>C
NM_000143.3:c.1109-69G>C , LRG_504t1:c.1109-69G>C NP_000134.2:n.1109-69G>C
XM_011544132.1:c.881-69G>C XP_011542434.1:n.881-69G>C
XM_011544132.2:c.881-69G>C XP_011542434.1:n.881-69G>C
NM_000143.4:c.1109-69G>C MANE Select NP_000134.2:n.1109-69G>C