Canonical Allele Identifier: CA2628330020
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48425320-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425320A>G , CM000677.2:g.48425320A>G GRCh38
NC_000015.9:g.48717517A>G , CM000677.1:g.48717517A>G GRCh37
NC_000015.8:g.46504809A>G NCBI36
NG_008805.2:g.225469T>C , LRG_778:g.225469T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*261+49T>C ENSP00000453958.2:n.*261+49T>C
ENST00000674301.2:c.*966+49T>C ENSP00000501333.2:n.*966+49T>C
ENST00000682170.1:n.1634+49T>C
ENST00000682767.1:n.750+49T>C
ENST00000316623.10:c.7453+49T>C MANE Select ENSP00000325527.5:n.7453+49T>C
ENST00000674301.1:c.2619+49T>C ENSP00000501333.1:n.2619+49T>C
ENST00000316623.9:c.7453+49T>C ENSP00000325527.5:n.7453+49T>C
ENST00000559133.5:c.2822+49T>C
NM_000138.4:c.7453+49T>C , LRG_778t1:c.7453+49T>C NP_000129.3:n.7453+49T>C
NM_000138.5:c.7453+49T>C MANE Select NP_000129.3:n.7453+49T>C
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