Canonical Allele Identifier: CA051573
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331082
ClinVar RCV Id: RCV001812613 RCV003772217
dbSNP Id: rs772287702
ExAC: 15:48775995 A / G
gnomAD v2: 15-48775995-A-G
gnomAD v3: 15-48483798-A-G
gnomAD v4: 15-48483798-A-G
MyVariant Identifiers: chr15:g.48775995A>G (hg19) chr15:g.48483798A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483798A>G , CM000677.2:g.48483798A>G GRCh38
NC_000015.9:g.48775995A>G , CM000677.1:g.48775995A>G GRCh37
NC_000015.8:g.46563287A>G NCBI36
NG_008805.2:g.166991T>C , LRG_778:g.166991T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3838+20T>C ENSP00000453958.2:n.3838+20T>C
ENST00000674301.2:c.3838+20T>C ENSP00000501333.2:n.3838+20T>C
ENST00000684448.1:n.2512+20T>C
ENST00000316623.10:c.3838+20T>C MANE Select ENSP00000325527.5:n.3838+20T>C
ENST00000316623.9:c.3838+20T>C ENSP00000325527.5:n.3838+20T>C
ENST00000537463.6:c.637-9148T>C ENSP00000440294.2:n.637-9148T>C
NM_000138.4:c.3838+20T>C , LRG_778t1:c.3838+20T>C NP_000129.3:n.3838+20T>C
NM_000138.5:c.3838+20T>C MANE Select NP_000129.3:n.3838+20T>C
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