Canonical Allele Identifier: CA1478761
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 2728078
ClinVar RCV Id: RCV003559367
dbSNP Id: rs200529043
ExAC: 1:241680632 C / T
gnomAD v2: 1-241680632-C-T
gnomAD v4: 1-241517332-C-T
MyVariant Identifiers: chr1:g.241680632C>T (hg19) chr1:g.241680632_241680633delinsTA (hg19) chr1:g.241517332C>T (hg38) chr1:g.241517332_241517333delinsTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241517332C>T , CM000663.2:g.241517332C>T GRCh38
NC_000001.10:g.241680632C>T , CM000663.1:g.241680632C>T GRCh37
NC_000001.9:g.239747255C>T NCBI36
NG_012338.1:g.7423G>A , LRG_504:g.7423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.636-16G>A
ENST00000682162.1:c.162-16G>A ENSP00000508203.1:n.162-16G>A
ENST00000682567.1:n.210-16G>A
ENST00000683521.1:c.133-16G>A ENSP00000506864.1:n.133-16G>A
ENST00000684483.1:c.133-16G>A ENSP00000507894.1:n.133-16G>A
ENST00000366560.4:c.133-16G>A MANE Select ENSP00000355518.4:n.133-16G>A
ENST00000366560.3:c.133-16G>A ENSP00000355518.3:n.133-16G>A
ENST00000493477.1:n.246-16G>A
NM_000143.3:c.133-16G>A , LRG_504t1:c.133-16G>A NP_000134.2:n.133-16G>A
XM_011544132.1:c.-96-16G>A XP_011542434.1:n.-96-16G>A
XM_011544132.2:c.-96-16G>A XP_011542434.1:n.-96-16G>A
NM_000143.4:c.133-16G>A MANE Select NP_000134.2:n.133-16G>A
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