Canonical Allele Identifier: CA270059292
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1183471
ClinVar RCV Id: RCV001541323
dbSNP Id: rs76249401
gnomAD v2: 15-48903221-C-T
gnomAD v3: 15-48611024-C-T
gnomAD v4: 15-48611024-C-T
MyVariant Identifiers: chr15:g.48903221C>T (hg19) chr15:g.48611024C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48611024C>T , CM000677.2:g.48611024C>T GRCh38
NC_000015.9:g.48903221C>T , CM000677.1:g.48903221C>T GRCh37
NC_000015.8:g.46690513C>T NCBI36
NG_008805.2:g.39765G>A , LRG_778:g.39765G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.248-198G>A ENSP00000453958.2:n.248-198G>A
ENST00000674301.2:c.248-198G>A ENSP00000501333.2:n.248-198G>A
ENST00000316623.10:c.248-198G>A MANE Select ENSP00000325527.5:n.248-198G>A
ENST00000316623.9:c.248-198G>A ENSP00000325527.5:n.248-198G>A
ENST00000537463.6:c.248-198G>A ENSP00000440294.2:n.248-198G>A
NM_000138.4:c.248-198G>A , LRG_778t1:c.248-198G>A NP_000129.3:n.248-198G>A
NM_000138.5:c.248-198G>A MANE Select NP_000129.3:n.248-198G>A
Search 100 bp 5'
Search 100 bp 3'