Canonical Allele Identifier: CA16043490
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374081
ClinVar RCV Id: RCV000414807
dbSNP Id: rs1057518883
MyVariant Identifiers: chr15:g.48707768A>C (hg19) chr15:g.48415571A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415571A>C , CM000677.2:g.48415571A>C GRCh38
NC_000015.9:g.48707768A>C , CM000677.1:g.48707768A>C GRCh37
NC_000015.8:g.46495060A>C NCBI36
NG_008805.2:g.235218T>G , LRG_778:g.235218T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*824T>G ENSP00000453958.2:n.*824T>G
ENST00000674301.2:c.*1529T>G ENSP00000501333.2:n.*1529T>G
ENST00000682158.1:n.1397T>G
ENST00000682170.1:n.2197T>G
ENST00000682767.1:n.1313T>G
ENST00000316623.10:c.8016T>G MANE Select ENSP00000325527.5:p.Cys2672Trp
ENST00000674301.1:c.3182T>G ENSP00000501333.1:n.3182T>G
ENST00000316623.9:c.8016T>G ENSP00000325527.5:p.Cys2672Trp
ENST00000559133.5:c.3385T>G
ENST00000561429.1:n.271T>G
NM_000138.4:c.8016T>G , LRG_778t1:c.8016T>G NP_000129.3:p.Cys2672Trp
NM_000138.5:c.8016T>G MANE Select NP_000129.3:p.Cys2672Trp
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