Canonical Allele Identifier: CA1478785
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 460359
dbSNP Id: rs112335468

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241519719A>G , CM000663.2:g.241519719A>G GRCh38
NC_000001.10:g.241683019A>G , CM000663.1:g.241683019A>G GRCh37
NC_000001.9:g.239749642A>G NCBI36
NG_012338.1:g.5036T>C , LRG_504:g.5036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682162.1:c.4T>C ENSP00000508203.1:p.Tyr2His
ENST00000682567.1:n.81T>C
ENST00000683521.1:c.4T>C ENSP00000506864.1:p.Tyr2His
ENST00000684483.1:c.4T>C ENSP00000507894.1:p.Tyr2His
ENST00000366560.4:c.4T>C MANE Select ENSP00000355518.4:p.Tyr2His
ENST00000366560.3:c.4T>C ENSP00000355518.3:p.Tyr2His
NM_000143.3:c.4T>C , LRG_504t1:c.4T>C NP_000134.2:p.Tyr2His
NM_000143.4:c.4T>C MANE Select NP_000134.2:p.Tyr2His