Canonical Allele Identifier: CA321582
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs863223991
MyVariant Identifiers: chr1:g.241663769_241663770del (hg19) chr1:g.241500469_241500470del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241500472_241500473del , CM000663.2:g.241500472_241500473del GRCh38
NC_000001.10:g.241663772_241663773del , CM000663.1:g.241663772_241663773del GRCh37
NC_000001.9:g.239730395_239730396del NCBI36
NG_012338.1:g.24285_24286del , LRG_504:g.24285_24286del

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.1860_1861del
ENST00000682162.1:c.1386_1387del ENSP00000508203.1:n.1386_1387del
ENST00000682567.1:n.4757_4758del
ENST00000683521.1:c.1357_1358del ENSP00000506864.1:p.Leu453AsnfsTer12
ENST00000684161.1:n.2572_2573del
ENST00000684483.1:c.*753_*754del ENSP00000507894.1:n.*753_*754del
ENST00000366560.4:c.1357_1358del MANE Select ENSP00000355518.4:p.Leu453AsnfsTer13
ENST00000366560.3:c.1357_1358del ENSP00000355518.3:p.Leu453AsnfsTer13
NM_000143.3:c.1357_1358del , LRG_504t1:c.1357_1358del NP_000134.2:p.Leu453AsnfsTer13
XM_011544132.1:c.1129_1130del XP_011542434.1:p.Leu377AsnfsTer13
XM_011544132.2:c.1129_1130del XP_011542434.1:p.Leu377AsnfsTer13
NM_000143.4:c.1357_1358del MANE Select NP_000134.2:p.Leu453AsnfsTer13
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