Canonical Allele Identifier: CA2512586344
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410691-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410691G>T , CM000677.2:g.48410691G>T GRCh38
NC_000015.9:g.48702888G>T , CM000677.1:g.48702888G>T GRCh37
NC_000015.8:g.46490180G>T NCBI36
NG_008805.2:g.240098C>A , LRG_778:g.240098C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1723C>A ENSP00000453958.2:n.*1723C>A
ENST00000682158.1:n.2296C>A
ENST00000682170.1:n.3096C>A
ENST00000682767.1:n.2212C>A
ENST00000316623.10:c.*299C>A MANE Select ENSP00000325527.5:n.*299C>A
ENST00000316623.9:c.*299C>A ENSP00000325527.5:n.*299C>A
ENST00000559133.5:c.4284C>A
NM_000138.4:c.*299C>A , LRG_778t1:c.*299C>A NP_000129.3:n.*299C>A
NM_000138.5:c.*299C>A MANE Select NP_000129.3:n.*299C>A
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