Canonical Allele Identifier: CA016007
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200189
ClinVar RCV Id: RCV000181696 RCV000253306 RCV000663811
dbSNP Id: rs794728333
COSMIC: COSM1728251
MyVariant Identifiers: chr15:g.48738965A>G (hg19) chr15:g.48446768A>G (hg38)
PubMed: PMID:11700157 PMID:21542060
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446768A>G , CM000677.2:g.48446768A>G GRCh38
NC_000015.9:g.48738965A>G , CM000677.1:g.48738965A>G GRCh37
NC_000015.8:g.46526257A>G NCBI36
NG_008805.2:g.204021T>C , LRG_778:g.204021T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5726T>C ENSP00000453958.2:p.Ile1909Thr
ENST00000674301.2:c.5726T>C ENSP00000501333.2:p.Ile1909Thr
ENST00000684448.1:n.4400T>C
ENST00000316623.10:c.5726T>C MANE Select ENSP00000325527.5:p.Ile1909Thr
ENST00000674301.1:c.725T>C ENSP00000501333.1:p.Ile242Thr
ENST00000316623.9:c.5726T>C ENSP00000325527.5:p.Ile1909Thr
ENST00000537463.6:c.*1489T>C ENSP00000440294.2:n.*1489T>C
ENST00000559133.5:c.1033T>C
NM_000138.4:c.5726T>C , LRG_778t1:c.5726T>C NP_000129.3:p.Ile1909Thr
NM_000138.5:c.5726T>C MANE Select NP_000129.3:p.Ile1909Thr
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