Canonical Allele Identifier: CA053367

Gene: FBN1

Linked Data

• ClinVar Variation Id: 919117
• ClinVar RCV Id: RCV001177084 ; RCV002068182 ; RCV004006355
• dbSNP Id: rs780024463
• ExAC: 15:48760310 T / C
• gnomAD v2: 15-48760310-T-C
• gnomAD v3: 15-48468113-T-C
• gnomAD v4: 15-48468113-T-C
• MyVariant Identifiers: chr15:g.48760310T>C (hg19) ; chr15:g.48468113T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468113T>C , CM000677.2:g.48468113T>C	GRCh38
NC_000015.9:g.48760310T>C , CM000677.1:g.48760310T>C	GRCh37
NC_000015.8:g.46547602T>C	NCBI36
NG_008805.2:g.182676A>G , LRG_778:g.182676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4583-11A>G	ENSP00000453958.2:n.4583-11A>G
ENST00000674301.2:c.4583-11A>G	ENSP00000501333.2:n.4583-11A>G
ENST00000684448.1:n.3257-11A>G
ENST00000316623.10:c.4583-11A>G MANE Select	ENSP00000325527.5:n.4583-11A>G
ENST00000316623.9:c.4583-11A>G	ENSP00000325527.5:n.4583-11A>G
ENST00000537463.6:c.*346-11A>G	ENSP00000440294.2:n.*346-11A>G
NM_000138.4:c.4583-11A>G , LRG_778t1:c.4583-11A>G	NP_000129.3:n.4583-11A>G
NM_000138.5:c.4583-11A>G MANE Select	NP_000129.3:n.4583-11A>G