Canonical Allele Identifier: CA713377254
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1323882298
gnomAD v3: 15-48409349-T-G
gnomAD v4: 15-48409349-T-G
MyVariant Identifiers: chr15:g.48701546T>G (hg19) chr15:g.48409349T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409349T>G , CM000677.2:g.48409349T>G GRCh38
NC_000015.9:g.48701546T>G , CM000677.1:g.48701546T>G GRCh37
NC_000015.8:g.46488838T>G NCBI36
NG_008805.2:g.241440A>C , LRG_778:g.241440A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.4438A>C
ENST00000682767.1:n.3554A>C
ENST00000316623.10:c.*1641A>C MANE Select ENSP00000325527.5:n.*1641A>C
ENST00000316623.9:c.*1641A>C ENSP00000325527.5:n.*1641A>C
NM_000138.4:c.*1641A>C , LRG_778t1:c.*1641A>C NP_000129.3:n.*1641A>C
NM_000138.5:c.*1641A>C MANE Select NP_000129.3:n.*1641A>C
Search 100 bp 5'
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