Canonical Allele Identifier: CA490017079
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1591323
ClinVar RCV Id: RCV002107631 RCV002346432
dbSNP Id: rs1404903351
gnomAD v3: 15-48483879-T-G
gnomAD v4: 15-48483879-T-G
COSMIC: COSM1629579
MyVariant Identifiers: chr15:g.48776076T>G (hg19) chr15:g.48483879T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483879T>G , CM000677.2:g.48483879T>G GRCh38
NC_000015.9:g.48776076T>G , CM000677.1:g.48776076T>G GRCh37
NC_000015.8:g.46563368T>G NCBI36
NG_008805.2:g.166910A>C , LRG_778:g.166910A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3777A>C ENSP00000453958.2:p.Gly1259=
ENST00000674301.2:c.3777A>C ENSP00000501333.2:p.Gly1259=
ENST00000684448.1:n.2451A>C
ENST00000316623.10:c.3777A>C MANE Select ENSP00000325527.5:p.Gly1259=
ENST00000316623.9:c.3777A>C ENSP00000325527.5:p.Gly1259=
ENST00000537463.6:c.637-9229A>C ENSP00000440294.2:n.637-9229A>C
NM_000138.4:c.3777A>C , LRG_778t1:c.3777A>C NP_000129.3:p.Gly1259=
NM_000138.5:c.3777A>C MANE Select NP_000129.3:p.Gly1259=
Search 100 bp 5'
Search 100 bp 3'