Canonical Allele Identifier: CA2628324907
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48410751-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410751A>T , CM000677.2:g.48410751A>T GRCh38
NC_000015.9:g.48702948A>T , CM000677.1:g.48702948A>T GRCh37
NC_000015.8:g.46490240A>T NCBI36
NG_008805.2:g.240038T>A , LRG_778:g.240038T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1663T>A ENSP00000453958.2:n.*1663T>A
ENST00000682158.1:n.2236T>A
ENST00000682170.1:n.3036T>A
ENST00000682767.1:n.2152T>A
ENST00000316623.10:c.*239T>A MANE Select ENSP00000325527.5:n.*239T>A
ENST00000316623.9:c.*239T>A ENSP00000325527.5:n.*239T>A
ENST00000559133.5:c.4224T>A
NM_000138.4:c.*239T>A , LRG_778t1:c.*239T>A NP_000129.3:n.*239T>A
NM_000138.5:c.*239T>A MANE Select NP_000129.3:n.*239T>A
Search 100 bp 5'
Search 100 bp 3'