Canonical Allele Identifier: CA392353828
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 626103
ClinVar RCV Id: RCV000768216 RCV001191894 RCV003999915
dbSNP Id: rs1566904712
gnomAD v4: 15-48468532-C-A
MyVariant Identifiers: chr15:g.48760729C>A (hg19) chr15:g.48468532C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468532C>A , CM000677.2:g.48468532C>A GRCh38
NC_000015.9:g.48760729C>A , CM000677.1:g.48760729C>A GRCh37
NC_000015.8:g.46548021C>A NCBI36
NG_008805.2:g.182257G>T , LRG_778:g.182257G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4462G>T ENSP00000453958.2:p.Val1488Leu
ENST00000674301.2:c.4462G>T ENSP00000501333.2:p.Val1488Leu
ENST00000684448.1:n.3136G>T
ENST00000316623.10:c.4462G>T MANE Select ENSP00000325527.5:p.Val1488Leu
ENST00000316623.9:c.4462G>T ENSP00000325527.5:p.Val1488Leu
ENST00000537463.6:c.*225G>T ENSP00000440294.2:n.*225G>T
NM_000138.4:c.4462G>T , LRG_778t1:c.4462G>T NP_000129.3:p.Val1488Leu
NM_000138.5:c.4462G>T MANE Select NP_000129.3:p.Val1488Leu
Search 100 bp 5'
Search 100 bp 3'