Canonical Allele Identifier: CA049509
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332421
ClinVar RCV Id: RCV001805467 RCV003772244
dbSNP Id: rs780301913
ExAC: 15:48782150 C / T
gnomAD v2: 15-48782150-C-T
gnomAD v3: 15-48489953-C-T
gnomAD v4: 15-48489953-C-T
COSMIC: COSM4055318
MyVariant Identifiers: chr15:g.48782150C>T (hg19) chr15:g.48489953C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48489953C>T , CM000677.2:g.48489953C>T GRCh38
NC_000015.9:g.48782150C>T , CM000677.1:g.48782150C>T GRCh37
NC_000015.8:g.46569442C>T NCBI36
NG_008805.2:g.160836G>A , LRG_778:g.160836G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2980G>A ENSP00000453958.2:p.Glu994Lys
ENST00000674301.2:c.2980G>A ENSP00000501333.2:p.Glu994Lys
ENST00000684448.1:n.1654G>A
ENST00000316623.10:c.2980G>A MANE Select ENSP00000325527.5:p.Glu994Lys
ENST00000316623.9:c.2980G>A ENSP00000325527.5:p.Glu994Lys
ENST00000537463.6:c.637-15303G>A ENSP00000440294.2:n.637-15303G>A
NM_000138.4:c.2980G>A , LRG_778t1:c.2980G>A NP_000129.3:p.Glu994Lys
NM_000138.5:c.2980G>A MANE Select NP_000129.3:p.Glu994Lys
Search 100 bp 5'
Search 100 bp 3'