Canonical Allele Identifier: CA2628324160
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48408532-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408532C>T , CM000677.2:g.48408532C>T GRCh38
NC_000015.9:g.48700729C>T , CM000677.1:g.48700729C>T GRCh37
NC_000015.8:g.46488021C>T NCBI36
NG_008805.2:g.242257G>A , LRG_778:g.242257G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.5255G>A
ENST00000682767.1:n.4371G>A
ENST00000316623.10:c.*2458G>A MANE Select ENSP00000325527.5:n.*2458G>A
ENST00000316623.9:c.*2458G>A ENSP00000325527.5:n.*2458G>A
NM_000138.4:c.*2458G>A , LRG_778t1:c.*2458G>A NP_000129.3:n.*2458G>A
NM_000138.5:c.*2458G>A MANE Select NP_000129.3:n.*2458G>A
Search 100 bp 5'
Search 100 bp 3'