Canonical Allele Identifier: CA269535074
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 626590
ClinVar RCV Id: RCV000769635 RCV001504531 RCV003144582 RCV003999929
dbSNP Id: rs919423974
gnomAD v2: 15-48741094-T-G
gnomAD v3: 15-48448897-T-G
gnomAD v4: 15-48448897-T-G
MyVariant Identifiers: chr15:g.48741094T>G (hg19) chr15:g.48448897T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448897T>G , CM000677.2:g.48448897T>G GRCh38
NC_000015.9:g.48741094T>G , CM000677.1:g.48741094T>G GRCh37
NC_000015.8:g.46528386T>G NCBI36
NG_008805.2:g.201892A>C , LRG_778:g.201892A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5546-4A>C ENSP00000453958.2:n.5546-4A>C
ENST00000674301.2:c.5546-4A>C ENSP00000501333.2:n.5546-4A>C
ENST00000684448.1:n.4220-4A>C
ENST00000316623.10:c.5546-4A>C MANE Select ENSP00000325527.5:n.5546-4A>C
ENST00000674301.1:c.545-4A>C ENSP00000501333.1:n.545-4A>C
ENST00000316623.9:c.5546-4A>C ENSP00000325527.5:n.5546-4A>C
ENST00000537463.6:c.*1309-4A>C ENSP00000440294.2:n.*1309-4A>C
ENST00000559133.5:c.853-4A>C
NM_000138.4:c.5546-4A>C , LRG_778t1:c.5546-4A>C NP_000129.3:n.5546-4A>C
NM_000138.5:c.5546-4A>C MANE Select NP_000129.3:n.5546-4A>C
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