Canonical Allele Identifier: CA16617116
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 418210
ClinVar RCV Id: RCV000482578
dbSNP Id: rs1064793126
MyVariant Identifiers: chr1:g.241671935T>C (hg19) chr1:g.241508635T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508635T>C , CM000663.2:g.241508635T>C GRCh38
NC_000001.10:g.241671935T>C , CM000663.1:g.241671935T>C GRCh37
NC_000001.9:g.239738558T>C NCBI36
NG_012338.1:g.16120A>G , LRG_504:g.16120A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1209A>G
ENST00000682162.1:c.735A>G ENSP00000508203.1:n.735A>G
ENST00000682567.1:n.783A>G
ENST00000683521.1:c.706A>G ENSP00000506864.1:p.Thr236Ala
ENST00000684161.1:n.1921A>G
ENST00000684483.1:c.*102A>G ENSP00000507894.1:n.*102A>G
ENST00000366560.4:c.706A>G MANE Select ENSP00000355518.4:p.Thr236Ala
ENST00000366560.3:c.706A>G ENSP00000355518.3:p.Thr236Ala
NM_000143.3:c.706A>G , LRG_504t1:c.706A>G NP_000134.2:p.Thr236Ala
XM_011544132.1:c.478A>G XP_011542434.1:p.Thr160Ala
XM_011544132.2:c.478A>G XP_011542434.1:p.Thr160Ala
NM_000143.4:c.706A>G MANE Select NP_000134.2:p.Thr236Ala
Search 100 bp 5'
Search 100 bp 3'