Canonical Allele Identifier: CA16609363
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 393577
ClinVar RCV Id: RCV000445617 RCV001782909
dbSNP Id: rs1060499642
MyVariant Identifiers: chr1:g.241667387C>A (hg19) chr1:g.241504087C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504087C>A , CM000663.2:g.241504087C>A GRCh38
NC_000001.10:g.241667387C>A , CM000663.1:g.241667387C>A GRCh37
NC_000001.9:g.239734010C>A NCBI36
NG_012338.1:g.20668G>T , LRG_504:g.20668G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1566G>T
ENST00000682162.1:c.1092G>T ENSP00000508203.1:n.1092G>T
ENST00000682567.1:n.1140G>T
ENST00000683521.1:c.1063G>T ENSP00000506864.1:p.Glu355Ter
ENST00000684161.1:n.2278G>T
ENST00000684483.1:c.*459G>T ENSP00000507894.1:n.*459G>T
ENST00000366560.4:c.1063G>T MANE Select ENSP00000355518.4:p.Glu355Ter
ENST00000366560.3:c.1063G>T ENSP00000355518.3:p.Glu355Ter
NM_000143.3:c.1063G>T , LRG_504t1:c.1063G>T NP_000134.2:p.Glu355Ter
XM_011544132.1:c.835G>T XP_011542434.1:p.Glu279Ter
XM_011544132.2:c.835G>T XP_011542434.1:p.Glu279Ter
NM_000143.4:c.1063G>T MANE Select NP_000134.2:p.Glu355Ter
Search 100 bp 5'
Search 100 bp 3'