Canonical Allele Identifier: CA345450657
Gene: FH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.241661216A>T (hg19) chr1:g.241497916A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241497916A>T , CM000663.2:g.241497916A>T GRCh38
NC_000001.10:g.241661216A>T , CM000663.1:g.241661216A>T GRCh37
NC_000001.9:g.239727839A>T NCBI36
NG_012338.1:g.26839T>A , LRG_504:g.26839T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1948T>A
ENST00000682162.1:c.1474T>A ENSP00000508203.1:n.1474T>A
ENST00000682567.1:n.4845T>A
ENST00000684161.1:n.2660T>A
ENST00000684483.1:c.*841T>A ENSP00000507894.1:n.*841T>A
ENST00000366560.4:c.1445T>A MANE Select ENSP00000355518.4:p.Leu482Ter
ENST00000366560.3:c.1445T>A ENSP00000355518.3:p.Leu482Ter
NM_000143.3:c.1445T>A , LRG_504t1:c.1445T>A NP_000134.2:p.Leu482Ter
XM_011544132.1:c.1217T>A XP_011542434.1:p.Leu406Ter
XM_011544132.2:c.1217T>A XP_011542434.1:p.Leu406Ter
NM_000143.4:c.1445T>A MANE Select NP_000134.2:p.Leu482Ter
Search 100 bp 5'
Search 100 bp 3'