Canonical Allele Identifier: CA16042931
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372849
ClinVar RCV Id: RCV000413001
dbSNP Id: rs1057518023
MyVariant Identifiers: chr15:g.48703528C>A (hg19) chr15:g.48411331C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411331C>A , CM000677.2:g.48411331C>A GRCh38
NC_000015.9:g.48703528C>A , CM000677.1:g.48703528C>A GRCh37
NC_000015.8:g.46490820C>A NCBI36
NG_008805.2:g.239458G>T , LRG_778:g.239458G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*1083G>T ENSP00000453958.2:n.*1083G>T
ENST00000674301.2:c.*1788G>T ENSP00000501333.2:n.*1788G>T
ENST00000682158.1:n.1656G>T
ENST00000682170.1:n.2456G>T
ENST00000682767.1:n.1572G>T
ENST00000316623.10:c.8275G>T MANE Select ENSP00000325527.5:p.Glu2759Ter
ENST00000674301.1:c.3441G>T ENSP00000501333.1:n.3441G>T
ENST00000316623.9:c.8275G>T ENSP00000325527.5:p.Glu2759Ter
ENST00000559133.5:c.3644G>T
ENST00000561429.1:n.530G>T
NM_000138.4:c.8275G>T , LRG_778t1:c.8275G>T NP_000129.3:p.Glu2759Ter
NM_000138.5:c.8275G>T MANE Select NP_000129.3:p.Glu2759Ter
Search 100 bp 5'
Search 100 bp 3'