Canonical Allele Identifier: CA017627
Gene: FBN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36126
dbSNP Id: rs193922242
COSMIC: COSM145401

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412576T>C , CM000677.2:g.48412576T>C GRCh38
NC_000015.9:g.48704773T>C , CM000677.1:g.48704773T>C GRCh37
NC_000015.8:g.46492065T>C NCBI36
NG_008805.2:g.238213A>G , LRG_778:g.238213A>G

Transcript Alleles

HGVS Amino-acid change
NM_000138.4:c.8219A>G , LRG_778t1:c.8219A>G NP_000129.3:p.Asn2740Ser
ENST00000316623.9:c.8219A>G ENSP00000325527.5:p.Asn2740Ser
ENST00000559133.5:n.3588A>G
ENST00000561429.1:n.474A>G