Canonical Allele Identifier: CA617833707
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1273440858
gnomAD v2: 15-48766446-A-G
gnomAD v3: 15-48474249-A-G
gnomAD v4: 15-48474249-A-G
MyVariant Identifiers: chr15:g.48766446A>G (hg19) chr15:g.48474249A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474249A>G , CM000677.2:g.48474249A>G GRCh38
NC_000015.9:g.48766446A>G , CM000677.1:g.48766446A>G GRCh37
NC_000015.8:g.46553738A>G NCBI36
NG_008805.2:g.176540T>C , LRG_778:g.176540T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4210+6T>C ENSP00000453958.2:n.4210+6T>C
ENST00000674301.2:c.4210+6T>C ENSP00000501333.2:n.4210+6T>C
ENST00000684448.1:n.2884+6T>C
ENST00000316623.10:c.4210+6T>C MANE Select ENSP00000325527.5:n.4210+6T>C
ENST00000316623.9:c.4210+6T>C ENSP00000325527.5:n.4210+6T>C
ENST00000537463.6:c.882+6T>C ENSP00000440294.2:n.882+6T>C
NM_000138.4:c.4210+6T>C , LRG_778t1:c.4210+6T>C NP_000129.3:n.4210+6T>C
NM_000138.5:c.4210+6T>C MANE Select NP_000129.3:n.4210+6T>C
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