Canonical Allele Identifier: CA017457
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36123
ClinVar RCV Id: RCV000029785
dbSNP Id: rs193922240
MyVariant Identifiers: chr15:g.48707886C>G (hg19) chr15:g.48415689C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48415689C>G , CM000677.2:g.48415689C>G GRCh38
NC_000015.9:g.48707886C>G , CM000677.1:g.48707886C>G GRCh37
NC_000015.8:g.46495178C>G NCBI36
NG_008805.2:g.235100G>C , LRG_778:g.235100G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*706G>C ENSP00000453958.2:n.*706G>C
ENST00000674301.2:c.*1411G>C ENSP00000501333.2:n.*1411G>C
ENST00000682158.1:n.1279G>C
ENST00000682170.1:n.2079G>C
ENST00000682767.1:n.1195G>C
ENST00000316623.10:c.7898G>C MANE Select ENSP00000325527.5:p.Cys2633Ser
ENST00000674301.1:c.3064G>C ENSP00000501333.1:n.3064G>C
ENST00000316623.9:c.7898G>C ENSP00000325527.5:p.Cys2633Ser
ENST00000559133.5:c.3267G>C
ENST00000561429.1:n.153G>C
NM_000138.4:c.7898G>C , LRG_778t1:c.7898G>C NP_000129.3:p.Cys2633Ser
NM_000138.5:c.7898G>C MANE Select NP_000129.3:p.Cys2633Ser
Search 100 bp 5'
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