Canonical Allele Identifier: CA617832380
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1478882079
gnomAD v2: 15-48702804-G-T
gnomAD v3: 15-48410607-G-T
gnomAD v4: 15-48410607-G-T
MyVariant Identifiers: chr15:g.48702804G>T (hg19) chr15:g.48410607G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410607G>T , CM000677.2:g.48410607G>T GRCh38
NC_000015.9:g.48702804G>T , CM000677.1:g.48702804G>T GRCh37
NC_000015.8:g.46490096G>T NCBI36
NG_008805.2:g.240182C>A , LRG_778:g.240182C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1807C>A ENSP00000453958.2:n.*1807C>A
ENST00000682158.1:n.2380C>A
ENST00000682170.1:n.3180C>A
ENST00000682767.1:n.2296C>A
ENST00000316623.10:c.*383C>A MANE Select ENSP00000325527.5:n.*383C>A
ENST00000316623.9:c.*383C>A ENSP00000325527.5:n.*383C>A
ENST00000559133.5:c.4368C>A
NM_000138.4:c.*383C>A , LRG_778t1:c.*383C>A NP_000129.3:n.*383C>A
NM_000138.5:c.*383C>A MANE Select NP_000129.3:n.*383C>A
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