Canonical Allele Identifier: CA051539
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919704
ClinVar RCV Id: RCV001178019 RCV002068210
dbSNP Id: rs112987543
ExAC: 15:48776055 A / G
gnomAD v2: 15-48776055-A-G
gnomAD v4: 15-48483858-A-G
MyVariant Identifiers: chr15:g.48776055A>G (hg19) chr15:g.48483858A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483858A>G , CM000677.2:g.48483858A>G GRCh38
NC_000015.9:g.48776055A>G , CM000677.1:g.48776055A>G GRCh37
NC_000015.8:g.46563347A>G NCBI36
NG_008805.2:g.166931T>C , LRG_778:g.166931T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3798T>C ENSP00000453958.2:p.Tyr1266=
ENST00000674301.2:c.3798T>C ENSP00000501333.2:p.Tyr1266=
ENST00000684448.1:n.2472T>C
ENST00000316623.10:c.3798T>C MANE Select ENSP00000325527.5:p.Tyr1266=
ENST00000316623.9:c.3798T>C ENSP00000325527.5:p.Tyr1266=
ENST00000537463.6:c.637-9208T>C ENSP00000440294.2:n.637-9208T>C
NM_000138.4:c.3798T>C , LRG_778t1:c.3798T>C NP_000129.3:p.Tyr1266=
NM_000138.5:c.3798T>C MANE Select NP_000129.3:p.Tyr1266=
Search 100 bp 5'
Search 100 bp 3'