Canonical Allele Identifier: CA321335
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 214391
ClinVar RCV Id: RCV002415845 RCV003468886
dbSNP Id: rs202166344
ExAC: 1:241683016 G / A
gnomAD v2: 1-241683016-G-A
gnomAD v4: 1-241519716-G-A
MyVariant Identifiers: chr1:g.241683016G>A (hg19) chr1:g.241519716G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241519716G>A , CM000663.2:g.241519716G>A GRCh38
NC_000001.10:g.241683016G>A , CM000663.1:g.241683016G>A GRCh37
NC_000001.9:g.239749639G>A NCBI36
NG_012338.1:g.5039C>T , LRG_504:g.5039C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682162.1:c.7C>T ENSP00000508203.1:p.Arg3Ter
ENST00000682567.1:n.84C>T
ENST00000683521.1:c.7C>T ENSP00000506864.1:p.Arg3Ter
ENST00000684483.1:c.7C>T ENSP00000507894.1:p.Arg3Ter
ENST00000366560.4:c.7C>T MANE Select ENSP00000355518.4:p.Arg3Ter
ENST00000366560.3:c.7C>T ENSP00000355518.3:p.Arg3Ter
NM_000143.3:c.7C>T , LRG_504t1:c.7C>T NP_000134.2:p.Arg3Ter
NM_000143.4:c.7C>T MANE Select NP_000134.2:p.Arg3Ter
Search 100 bp 5'
Search 100 bp 3'