Canonical Allele Identifier: CA424076179
Gene: FH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.241672080T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508780T>C , CM000663.2:g.241508780T>C GRCh38
NC_000001.10:g.241672080T>C , CM000663.1:g.241672080T>C GRCh37
NC_000001.9:g.239738703T>C NCBI36
NG_012338.1:g.15975A>G , LRG_504:g.15975A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1064A>G
ENST00000682162.1:c.590A>G ENSP00000508203.1:n.590A>G
ENST00000682567.1:n.638A>G
ENST00000683521.1:c.561A>G ENSP00000506864.1:p.Ser187=
ENST00000684161.1:n.1776A>G
ENST00000684483.1:c.556-20A>G ENSP00000507894.1:n.556-20A>G
ENST00000366560.4:c.561A>G MANE Select ENSP00000355518.4:p.Ser187=
ENST00000366560.3:c.561A>G ENSP00000355518.3:p.Ser187=
NM_000143.3:c.561A>G , LRG_504t1:c.561A>G NP_000134.2:p.Ser187=
XM_011544132.1:c.333A>G XP_011542434.1:p.Ser111=
XM_011544132.2:c.333A>G XP_011542434.1:p.Ser111=
NM_000143.4:c.561A>G MANE Select NP_000134.2:p.Ser187=