Canonical Allele Identifier: CA392320388
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 492829
ClinVar RCV Id: RCV000581910
dbSNP Id: rs1555397671

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474379T>G , CM000677.2:g.48474379T>G GRCh38
NC_000015.9:g.48766576T>G , CM000677.1:g.48766576T>G GRCh37
NC_000015.8:g.46553868T>G NCBI36
NG_008805.2:g.176410A>C , LRG_778:g.176410A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-2A>C ENSP00000453958.2:n.4088-2A>C
ENST00000674301.2:c.4088-2A>C ENSP00000501333.2:n.4088-2A>C
ENST00000684448.1:n.2762-2A>C
ENST00000316623.10:c.4088-2A>C MANE Select ENSP00000325527.5:n.4088-2A>C
ENST00000316623.9:c.4088-2A>C ENSP00000325527.5:n.4088-2A>C
ENST00000537463.6:c.760-2A>C ENSP00000440294.2:n.760-2A>C
NM_000138.4:c.4088-2A>C , LRG_778t1:c.4088-2A>C NP_000129.3:n.4088-2A>C
NM_000138.5:c.4088-2A>C MANE Select NP_000129.3:n.4088-2A>C