Canonical Allele Identifier: CA14131428
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 672311
ClinVar RCV Id: RCV000831562
dbSNP Id: rs1018148
gnomAD v2: 15-48903126-A-G
gnomAD v3: 15-48610929-A-G
gnomAD v4: 15-48610929-A-G
MyVariant Identifiers: chr15:g.48903126A>G (hg19) chr15:g.48610929A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48610929A>G , CM000677.2:g.48610929A>G GRCh38
NC_000015.9:g.48903126A>G , CM000677.1:g.48903126A>G GRCh37
NC_000015.8:g.46690418A>G NCBI36
NG_008805.2:g.39860T>C , LRG_778:g.39860T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.248-103T>C ENSP00000453958.2:n.248-103T>C
ENST00000674301.2:c.248-103T>C ENSP00000501333.2:n.248-103T>C
ENST00000316623.10:c.248-103T>C MANE Select ENSP00000325527.5:n.248-103T>C
ENST00000316623.9:c.248-103T>C ENSP00000325527.5:n.248-103T>C
ENST00000537463.6:c.248-103T>C ENSP00000440294.2:n.248-103T>C
NM_000138.4:c.248-103T>C , LRG_778t1:c.248-103T>C NP_000129.3:n.248-103T>C
NM_000138.5:c.248-103T>C MANE Select NP_000129.3:n.248-103T>C
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