Canonical Allele Identifier: CA269527102
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071378
ClinVar RCV Id: RCV004014880
dbSNP Id: rs555552301
gnomAD v3: 15-48485396-C-T
gnomAD v4: 15-48485396-C-T
MyVariant Identifiers: chr15:g.48777593C>T (hg19) chr15:g.48485396C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485396C>T , CM000677.2:g.48485396C>T GRCh38
NC_000015.9:g.48777593C>T , CM000677.1:g.48777593C>T GRCh37
NC_000015.8:g.46564885C>T NCBI36
NG_008805.2:g.165393G>A , LRG_778:g.165393G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3690G>A ENSP00000453958.2:p.Met1230Ile
ENST00000674301.2:c.3690G>A ENSP00000501333.2:p.Met1230Ile
ENST00000684448.1:n.2364G>A
ENST00000316623.10:c.3690G>A MANE Select ENSP00000325527.5:p.Met1230Ile
ENST00000316623.9:c.3690G>A ENSP00000325527.5:p.Met1230Ile
ENST00000537463.6:c.637-10746G>A ENSP00000440294.2:n.637-10746G>A
NM_000138.4:c.3690G>A , LRG_778t1:c.3690G>A NP_000129.3:p.Met1230Ile
NM_000138.5:c.3690G>A MANE Select NP_000129.3:p.Met1230Ile
Search 100 bp 5'
Search 100 bp 3'