Canonical Allele Identifier: CA017386
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42433
ClinVar RCV Id: RCV001573981 RCV002277124
dbSNP Id: rs363838
ExAC: 15:48712876 T / G
gnomAD v2: 15-48712876-T-G
gnomAD v3: 15-48420679-T-G
gnomAD v4: 15-48420679-T-G
MyVariant Identifiers: chr15:g.48712876T>G (hg19) chr15:g.48420679T>G (hg38)
PubMed: PMID:11826022 PMID:12446365
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48420679T>G , CM000677.2:g.48420679T>G GRCh38
NC_000015.9:g.48712876T>G , CM000677.1:g.48712876T>G GRCh37
NC_000015.8:g.46500168T>G NCBI36
NG_008805.2:g.230110A>C , LRG_778:g.230110A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*627+8A>C ENSP00000453958.2:n.*627+8A>C
ENST00000674301.2:c.*1332+8A>C ENSP00000501333.2:n.*1332+8A>C
ENST00000682170.1:n.2000+8A>C
ENST00000682767.1:n.1116+8A>C
ENST00000316623.10:c.7819+8A>C MANE Select ENSP00000325527.5:n.7819+8A>C
ENST00000674301.1:c.2985+8A>C ENSP00000501333.1:n.2985+8A>C
ENST00000316623.9:c.7819+8A>C ENSP00000325527.5:n.7819+8A>C
ENST00000559133.5:c.3188+8A>C
NM_000138.4:c.7819+8A>C , LRG_778t1:c.7819+8A>C NP_000129.3:n.7819+8A>C
NM_000138.5:c.7819+8A>C MANE Select NP_000129.3:n.7819+8A>C
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