Canonical Allele Identifier: CA2175515216
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1451487048
gnomAD v4: 15-48487508-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487508C>A , CM000677.2:g.48487508C>A GRCh38
NC_000015.9:g.48779705C>A , CM000677.1:g.48779705C>A GRCh37
NC_000015.8:g.46566997C>A NCBI36
NG_008805.2:g.163281G>T , LRG_778:g.163281G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3338-71G>T ENSP00000453958.2:n.3338-71G>T
ENST00000674301.2:c.3338-71G>T ENSP00000501333.2:n.3338-71G>T
ENST00000684448.1:n.2012-71G>T
ENST00000316623.10:c.3338-71G>T MANE Select ENSP00000325527.5:n.3338-71G>T
ENST00000316623.9:c.3338-71G>T ENSP00000325527.5:n.3338-71G>T
ENST00000537463.6:c.637-12858G>T ENSP00000440294.2:n.637-12858G>T
NM_000138.4:c.3338-71G>T , LRG_778t1:c.3338-71G>T NP_000129.3:n.3338-71G>T
NM_000138.5:c.3338-71G>T MANE Select NP_000129.3:n.3338-71G>T
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