Canonical Allele Identifier: CA1478689
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 529833
ClinVar RCV Id: RCV002528879
dbSNP Id: rs761444069
ExAC: 1:241675449 G / GA
gnomAD v2: 1-241675449-G-GA
gnomAD v3: 1-241512149-G-GA
gnomAD v4: 1-241512149-G-GA
MyVariant Identifiers: chr1:g.241675450dup (hg19) chr1:g.241675449_241675450insA (hg19) chr1:g.241512150dup (hg38) chr1:g.241512149_241512150insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512155dup , CM000663.2:g.241512155dup GRCh38
NC_000001.10:g.241675455dup , CM000663.1:g.241675455dup GRCh37
NC_000001.9:g.239742078dup NCBI36
NG_012338.1:g.12605dup , LRG_504:g.12605dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-7dup
ENST00000682162.1:c.408-7dup ENSP00000508203.1:n.408-7dup
ENST00000682567.1:n.456-7dup
ENST00000683521.1:c.379-7dup ENSP00000506864.1:n.379-7dup
ENST00000684483.1:c.379-7dup ENSP00000507894.1:n.379-7dup
ENST00000366560.4:c.379-7dup MANE Select ENSP00000355518.4:n.379-7dup
ENST00000366560.3:c.379-7dup ENSP00000355518.3:n.379-7dup
ENST00000497042.1:n.75-7dup
NM_000143.3:c.379-7dup , LRG_504t1:c.379-7dup NP_000134.2:n.379-7dup
XM_011544132.1:c.151-7dup XP_011542434.1:n.151-7dup
XM_011544132.2:c.151-7dup XP_011542434.1:n.151-7dup
NM_000143.4:c.379-7dup MANE Select NP_000134.2:n.379-7dup
Search 100 bp 5'
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