Canonical Allele Identifier: CA2628336729
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v4: 15-48520943-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520943C>T , CM000677.2:g.48520943C>T GRCh38
NC_000015.9:g.48813140C>T , CM000677.1:g.48813140C>T GRCh37
NC_000015.8:g.46600432C>T NCBI36
NG_008805.2:g.129846G>A , LRG_778:g.129846G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.989-126G>A ENSP00000453958.2:n.989-126G>A
ENST00000674301.2:c.989-126G>A ENSP00000501333.2:n.989-126G>A
ENST00000316623.10:c.989-126G>A MANE Select ENSP00000325527.5:n.989-126G>A
ENST00000316623.9:c.989-126G>A ENSP00000325527.5:n.989-126G>A
ENST00000537463.6:c.636+16768G>A ENSP00000440294.2:n.636+16768G>A
NM_000138.4:c.989-126G>A , LRG_778t1:c.989-126G>A NP_000129.3:n.989-126G>A
NM_000138.5:c.989-126G>A MANE Select NP_000129.3:n.989-126G>A
Search 100 bp 5'
Search 100 bp 3'