Canonical Allele Identifier: CA167599
Gene: FH HGNC NCBI

Linked Data

ClinVar Variation Id: 137370
ClinVar RCV Id: RCV000179718 RCV000346503 RCV000382481 RCV000589837 RCV000131065
dbSNP Id: rs61737760
ExAC: 1:241667523 C / T
gnomAD v2: 1-241667523-C-T
gnomAD v3: 1-241504223-C-T
gnomAD v4: 1-241504223-C-T
MyVariant Identifiers: chr1:g.241667523C>T (hg19) chr1:g.241504223C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504223C>T , CM000663.2:g.241504223C>T GRCh38
NC_000001.10:g.241667523C>T , CM000663.1:g.241667523C>T GRCh37
NC_000001.9:g.239734146C>T NCBI36
NG_012338.1:g.20532G>A , LRG_504:g.20532G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1430G>A
ENST00000682162.1:c.956G>A ENSP00000508203.1:n.956G>A
ENST00000682567.1:n.1004G>A
ENST00000683521.1:c.927G>A ENSP00000506864.1:p.Pro309=
ENST00000684161.1:n.2142G>A
ENST00000684483.1:c.*323G>A ENSP00000507894.1:n.*323G>A
ENST00000366560.4:c.927G>A MANE Select ENSP00000355518.4:p.Pro309=
ENST00000366560.3:c.927G>A ENSP00000355518.3:p.Pro309=
NM_000143.3:c.927G>A , LRG_504t1:c.927G>A NP_000134.2:p.Pro309=
XM_011544132.1:c.699G>A XP_011542434.1:p.Pro233=
XM_011544132.2:c.699G>A XP_011542434.1:p.Pro233=
NM_000143.4:c.927G>A MANE Select NP_000134.2:p.Pro309=
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