Canonical Allele Identifier: CA2573150804
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1550492
ClinVar RCV Id: RCV002189736
dbSNP Id: rs2141289788
gnomAD v4: 15-48483947-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483947C>T , CM000677.2:g.48483947C>T GRCh38
NC_000015.9:g.48776144C>T , CM000677.1:g.48776144C>T GRCh37
NC_000015.8:g.46563436C>T NCBI36
NG_008805.2:g.166842G>A , LRG_778:g.166842G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3713-4G>A ENSP00000453958.2:n.3713-4G>A
ENST00000674301.2:c.3713-4G>A ENSP00000501333.2:n.3713-4G>A
ENST00000684448.1:n.2387-4G>A
ENST00000316623.10:c.3713-4G>A MANE Select ENSP00000325527.5:n.3713-4G>A
ENST00000316623.9:c.3713-4G>A ENSP00000325527.5:n.3713-4G>A
ENST00000537463.6:c.637-9297G>A ENSP00000440294.2:n.637-9297G>A
NM_000138.4:c.3713-4G>A , LRG_778t1:c.3713-4G>A NP_000129.3:n.3713-4G>A
NM_000138.5:c.3713-4G>A MANE Select NP_000129.3:n.3713-4G>A
Search 100 bp 5'
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