Canonical Allele Identifier: CA269518579
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 886213
ClinVar RCV Id: RCV001118278 RCV001118279 RCV001118280 RCV001118281 RCV001118282 RCV001119803
dbSNP Id: rs562749473
gnomAD v2: 15-48703080-T-C
gnomAD v3: 15-48410883-T-C
gnomAD v4: 15-48410883-T-C
MyVariant Identifiers: chr15:g.48703080T>C (hg19) chr15:g.48410883T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410883T>C , CM000677.2:g.48410883T>C GRCh38
NC_000015.9:g.48703080T>C , CM000677.1:g.48703080T>C GRCh37
NC_000015.8:g.46490372T>C NCBI36
NG_008805.2:g.239906A>G , LRG_778:g.239906A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1531A>G ENSP00000453958.2:n.*1531A>G
ENST00000682158.1:n.2104A>G
ENST00000682170.1:n.2904A>G
ENST00000682767.1:n.2020A>G
ENST00000316623.10:c.*107A>G MANE Select ENSP00000325527.5:n.*107A>G
ENST00000316623.9:c.*107A>G ENSP00000325527.5:n.*107A>G
ENST00000559133.5:c.4092A>G
NM_000138.4:c.*107A>G , LRG_778t1:c.*107A>G NP_000129.3:n.*107A>G
NM_000138.5:c.*107A>G MANE Select NP_000129.3:n.*107A>G
Search 100 bp 5'
Search 100 bp 3'