Canonical Allele Identifier: CA2175494636
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1597533439
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446623C>T , CM000677.2:g.48446623C>T GRCh38
NC_000015.9:g.48738820C>T , CM000677.1:g.48738820C>T GRCh37
NC_000015.8:g.46526112C>T NCBI36
NG_008805.2:g.204166G>A , LRG_778:g.204166G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5788+83G>A ENSP00000453958.2:n.5788+83G>A
ENST00000674301.2:c.5788+83G>A ENSP00000501333.2:n.5788+83G>A
ENST00000684448.1:n.4462+83G>A
ENST00000316623.10:c.5788+83G>A MANE Select ENSP00000325527.5:n.5788+83G>A
ENST00000674301.1:c.787+83G>A ENSP00000501333.1:n.787+83G>A
ENST00000316623.9:c.5788+83G>A ENSP00000325527.5:n.5788+83G>A
ENST00000537463.6:c.*1551+83G>A ENSP00000440294.2:n.*1551+83G>A
ENST00000559133.5:c.1095+83G>A
NM_000138.4:c.5788+83G>A , LRG_778t1:c.5788+83G>A NP_000129.3:n.5788+83G>A
NM_000138.5:c.5788+83G>A MANE Select NP_000129.3:n.5788+83G>A
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