Canonical Allele Identifier: CA392318430
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48703209T>C (hg19) chr15:g.48411012T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411012T>C , CM000677.2:g.48411012T>C GRCh38
NC_000015.9:g.48703209T>C , CM000677.1:g.48703209T>C GRCh37
NC_000015.8:g.46490501T>C NCBI36
NG_008805.2:g.239777A>G , LRG_778:g.239777A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1402A>G ENSP00000453958.2:n.*1402A>G
ENST00000682158.1:n.1975A>G
ENST00000682170.1:n.2775A>G
ENST00000682767.1:n.1891A>G
ENST00000316623.10:c.8594A>G MANE Select ENSP00000325527.5:p.Lys2865Arg
ENST00000316623.9:c.8594A>G ENSP00000325527.5:p.Lys2865Arg
ENST00000559133.5:c.3963A>G
NM_000138.4:c.8594A>G , LRG_778t1:c.8594A>G NP_000129.3:p.Lys2865Arg
NM_000138.5:c.8594A>G MANE Select NP_000129.3:p.Lys2865Arg
Search 100 bp 5'
Search 100 bp 3'