Canonical Allele Identifier: CA392335884
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 933156
ClinVar RCV Id: RCV001201188
dbSNP Id: rs1064794025
MyVariant Identifiers: chr15:g.48789577A>C (hg19) chr15:g.48497380A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48497380A>C , CM000677.2:g.48497380A>C GRCh38
NC_000015.9:g.48789577A>C , CM000677.1:g.48789577A>C GRCh37
NC_000015.8:g.46576869A>C NCBI36
NG_008805.2:g.153409T>G , LRG_778:g.153409T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2179T>G ENSP00000453958.2:p.Cys727Gly
ENST00000674301.2:c.2179T>G ENSP00000501333.2:p.Cys727Gly
ENST00000684448.1:n.853T>G
ENST00000316623.10:c.2179T>G MANE Select ENSP00000325527.5:p.Cys727Gly
ENST00000316623.9:c.2179T>G ENSP00000325527.5:p.Cys727Gly
ENST00000537463.6:c.637-22730T>G ENSP00000440294.2:n.637-22730T>G
NM_000138.4:c.2179T>G , LRG_778t1:c.2179T>G NP_000129.3:p.Cys727Gly
NM_000138.5:c.2179T>G MANE Select NP_000129.3:p.Cys727Gly
Search 100 bp 5'
Search 100 bp 3'