Canonical Allele Identifier: CA392320649
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1073642
ClinVar RCV Id: RCV001386705
dbSNP Id: rs2141280296
MyVariant Identifiers: chr15:g.48766839C>A (hg19) chr15:g.48474642C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474642C>A , CM000677.2:g.48474642C>A GRCh38
NC_000015.9:g.48766839C>A , CM000677.1:g.48766839C>A GRCh37
NC_000015.8:g.46554131C>A NCBI36
NG_008805.2:g.176147G>T , LRG_778:g.176147G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3973G>T ENSP00000453958.2:p.Glu1325Ter
ENST00000674301.2:c.3973G>T ENSP00000501333.2:p.Glu1325Ter
ENST00000684448.1:n.2647G>T
ENST00000316623.10:c.3973G>T MANE Select ENSP00000325527.5:p.Glu1325Ter
ENST00000316623.9:c.3973G>T ENSP00000325527.5:p.Glu1325Ter
ENST00000537463.6:c.645G>T ENSP00000440294.2:p.Met215Ile
NM_000138.4:c.3973G>T , LRG_778t1:c.3973G>T NP_000129.3:p.Glu1325Ter
NM_000138.5:c.3973G>T MANE Select NP_000129.3:p.Glu1325Ter
Search 100 bp 5'
Search 100 bp 3'