Canonical Allele Identifier: CA2698415683
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs2147915989

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504026C>T , CM000663.2:g.241504026C>T GRCh38
NC_000001.10:g.241667326C>T , CM000663.1:g.241667326C>T GRCh37
NC_000001.9:g.239733949C>T NCBI36
NG_012338.1:g.20729G>A , LRG_504:g.20729G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1611+16G>A
ENST00000682162.1:c.1137+16G>A ENSP00000508203.1:n.1137+16G>A
ENST00000682567.1:n.1201G>A
ENST00000683521.1:c.1108+16G>A ENSP00000506864.1:n.1108+16G>A
ENST00000684161.1:n.2323+16G>A
ENST00000684483.1:c.*504+16G>A ENSP00000507894.1:n.*504+16G>A
ENST00000366560.4:c.1108+16G>A MANE Select ENSP00000355518.4:n.1108+16G>A
ENST00000366560.3:c.1108+16G>A ENSP00000355518.3:n.1108+16G>A
NM_000143.3:c.1108+16G>A , LRG_504t1:c.1108+16G>A NP_000134.2:n.1108+16G>A
XM_011544132.1:c.880+16G>A XP_011542434.1:n.880+16G>A
XM_011544132.2:c.880+16G>A XP_011542434.1:n.880+16G>A
NM_000143.4:c.1108+16G>A MANE Select NP_000134.2:n.1108+16G>A