Canonical Allele Identifier: CA490021594
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457241
ClinVar RCV Id: RCV000536710 RCV001186893 RCV004003792
dbSNP Id: rs1397665480
gnomAD v3: 15-48441785-T-C
gnomAD v4: 15-48441785-T-C
MyVariant Identifiers: chr15:g.48733982T>C (hg19) chr15:g.48441785T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441785T>C , CM000677.2:g.48441785T>C GRCh38
NC_000015.9:g.48733982T>C , CM000677.1:g.48733982T>C GRCh37
NC_000015.8:g.46521274T>C NCBI36
NG_008805.2:g.209004A>G , LRG_778:g.209004A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6099A>G ENSP00000453958.2:p.Glu2033=
ENST00000674301.2:c.6099A>G ENSP00000501333.2:p.Glu2033=
ENST00000316623.10:c.6099A>G MANE Select ENSP00000325527.5:p.Glu2033=
ENST00000674301.1:c.1098A>G ENSP00000501333.1:p.Glu366=
ENST00000316623.9:c.6099A>G ENSP00000325527.5:p.Glu2033=
ENST00000537463.6:c.*1862A>G ENSP00000440294.2:n.*1862A>G
ENST00000559133.5:c.1406A>G
ENST00000560820.1:n.219A>G
NM_000138.4:c.6099A>G , LRG_778t1:c.6099A>G NP_000129.3:p.Glu2033=
NM_000138.5:c.6099A>G MANE Select NP_000129.3:p.Glu2033=
Search 100 bp 5'
Search 100 bp 3'