Canonical Allele Identifier: CA490310914
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070319
ClinVar RCV Id: RCV004011837
dbSNP Id: rs2043543946
gnomAD v3: 15-48489996-G-A
gnomAD v4: 15-48489996-G-A
MyVariant Identifiers: chr15:g.48782193G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489996G>A , CM000677.2:g.48489996G>A GRCh38
NC_000015.9:g.48782193G>A , CM000677.1:g.48782193G>A GRCh37
NC_000015.8:g.46569485G>A NCBI36
NG_008805.2:g.160793C>T , LRG_778:g.160793C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2937C>T ENSP00000453958.2:p.Ala979=
ENST00000674301.2:c.2937C>T ENSP00000501333.2:p.Ala979=
ENST00000684448.1:n.1611C>T
ENST00000316623.10:c.2937C>T MANE Select ENSP00000325527.5:p.Ala979=
ENST00000316623.9:c.2937C>T ENSP00000325527.5:p.Ala979=
ENST00000537463.6:c.637-15346C>T ENSP00000440294.2:n.637-15346C>T
NM_000138.4:c.2937C>T , LRG_778t1:c.2937C>T NP_000129.3:p.Ala979=
NM_000138.5:c.2937C>T MANE Select NP_000129.3:p.Ala979=
Search 100 bp 5'
Search 100 bp 3'