Canonical Allele Identifier: CA2628338064
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48610858-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48610858G>A , CM000677.2:g.48610858G>A GRCh38
NC_000015.9:g.48903055G>A , CM000677.1:g.48903055G>A GRCh37
NC_000015.8:g.46690347G>A NCBI36
NG_008805.2:g.39931C>T , LRG_778:g.39931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.248-32C>T ENSP00000453958.2:n.248-32C>T
ENST00000674301.2:c.248-32C>T ENSP00000501333.2:n.248-32C>T
ENST00000316623.10:c.248-32C>T MANE Select ENSP00000325527.5:n.248-32C>T
ENST00000316623.9:c.248-32C>T ENSP00000325527.5:n.248-32C>T
ENST00000537463.6:c.248-32C>T ENSP00000440294.2:n.248-32C>T
NM_000138.4:c.248-32C>T , LRG_778t1:c.248-32C>T NP_000129.3:n.248-32C>T
NM_000138.5:c.248-32C>T MANE Select NP_000129.3:n.248-32C>T
Search 100 bp 5'
Search 100 bp 3'