Canonical Allele Identifier: CA490118866
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48703289T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411092T>C , CM000677.2:g.48411092T>C GRCh38
NC_000015.9:g.48703289T>C , CM000677.1:g.48703289T>C GRCh37
NC_000015.8:g.46490581T>C NCBI36
NG_008805.2:g.239697A>G , LRG_778:g.239697A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1322A>G ENSP00000453958.2:n.*1322A>G
ENST00000682158.1:n.1895A>G
ENST00000682170.1:n.2695A>G
ENST00000682767.1:n.1811A>G
ENST00000316623.10:c.8514A>G MANE Select ENSP00000325527.5:p.Lys2838=
ENST00000316623.9:c.8514A>G ENSP00000325527.5:p.Lys2838=
ENST00000559133.5:c.3883A>G
NM_000138.4:c.8514A>G , LRG_778t1:c.8514A>G NP_000129.3:p.Lys2838=
NM_000138.5:c.8514A>G MANE Select NP_000129.3:p.Lys2838=
Search 100 bp 5'
Search 100 bp 3'