Canonical Allele Identifier: CA270013786
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs375347075
gnomAD v2: 15-48830253-A-G
gnomAD v3: 15-48538056-A-G
gnomAD v4: 15-48538056-A-G
MyVariant Identifiers: chr15:g.48830253A>G (hg19) chr15:g.48538056A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48538056A>G , CM000677.2:g.48538056A>G GRCh38
NC_000015.9:g.48830253A>G , CM000677.1:g.48830253A>G GRCh37
NC_000015.8:g.46617545A>G NCBI36
NG_008805.2:g.112733T>C , LRG_778:g.112733T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.539-248T>C ENSP00000453958.2:n.539-248T>C
ENST00000674301.2:c.539-248T>C ENSP00000501333.2:n.539-248T>C
ENST00000316623.10:c.539-248T>C MANE Select ENSP00000325527.5:n.539-248T>C
ENST00000316623.9:c.539-248T>C ENSP00000325527.5:n.539-248T>C
ENST00000537463.6:c.539-248T>C ENSP00000440294.2:n.539-248T>C
NM_000138.4:c.539-248T>C , LRG_778t1:c.539-248T>C NP_000129.3:n.539-248T>C
NM_000138.5:c.539-248T>C MANE Select NP_000129.3:n.539-248T>C
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