Canonical Allele Identifier: CA2628333366
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48437243-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48437243G>T , CM000677.2:g.48437243G>T GRCh38
NC_000015.9:g.48729440G>T , CM000677.1:g.48729440G>T GRCh37
NC_000015.8:g.46516732G>T NCBI36
NG_008805.2:g.213546C>A , LRG_778:g.213546C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6379+79C>A ENSP00000453958.2:n.6379+79C>A
ENST00000674301.2:c.6379+79C>A ENSP00000501333.2:n.6379+79C>A
ENST00000316623.10:c.6379+79C>A MANE Select ENSP00000325527.5:n.6379+79C>A
ENST00000674301.1:c.1378+79C>A ENSP00000501333.1:n.1378+79C>A
ENST00000316623.9:c.6379+79C>A ENSP00000325527.5:n.6379+79C>A
ENST00000537463.6:c.*2142+79C>A ENSP00000440294.2:n.*2142+79C>A
ENST00000559133.5:c.1686+79C>A
NM_000138.4:c.6379+79C>A , LRG_778t1:c.6379+79C>A NP_000129.3:n.6379+79C>A
NM_000138.5:c.6379+79C>A MANE Select NP_000129.3:n.6379+79C>A
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