Canonical Allele Identifier: CA16609377
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 393560
ClinVar RCV Id: RCV000445632 RCV000626620 RCV002526367
dbSNP Id: rs1060499630
MyVariant Identifiers: chr1:g.241676959G>A (hg19) chr1:g.241513659G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241513659G>A , CM000663.2:g.241513659G>A GRCh38
NC_000001.10:g.241676959G>A , CM000663.1:g.241676959G>A GRCh37
NC_000001.9:g.239743582G>A NCBI36
NG_012338.1:g.11096C>T , LRG_504:g.11096C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.825C>T
ENST00000682162.1:c.351C>T ENSP00000508203.1:n.351C>T
ENST00000682567.1:n.399C>T
ENST00000683521.1:c.322C>T ENSP00000506864.1:p.Gln108Ter
ENST00000684483.1:c.322C>T ENSP00000507894.1:p.Gln108Ter
ENST00000366560.4:c.322C>T MANE Select ENSP00000355518.4:p.Gln108Ter
ENST00000366560.3:c.322C>T ENSP00000355518.3:p.Gln108Ter
ENST00000497042.1:n.18C>T
NM_000143.3:c.322C>T , LRG_504t1:c.322C>T NP_000134.2:p.Gln108Ter
XM_011544132.1:c.94C>T XP_011542434.1:p.Gln32Ter
XM_011544132.2:c.94C>T XP_011542434.1:p.Gln32Ter
NM_000143.4:c.322C>T MANE Select NP_000134.2:p.Gln108Ter
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