Canonical Allele Identifier: CA054949

Gene: FBN1

Linked Data

• ClinVar Variation Id: 237098
• ClinVar RCV Id: RCV000277311 ; RCV000726081 ; RCV001089035 ; RCV001186933 ; RCV004541367
• dbSNP Id: rs377036485
• ExAC: 15:48744885 C / T
• gnomAD v2: 15-48744885-C-T
• gnomAD v3: 15-48452688-C-T
• gnomAD v4: 15-48452688-C-T
• MyVariant Identifiers: chr15:g.48744885C>T (hg19) ; chr15:g.48452688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452688C>T , CM000677.2:g.48452688C>T	GRCh38
NC_000015.9:g.48744885C>T , CM000677.1:g.48744885C>T	GRCh37
NC_000015.8:g.46532177C>T	NCBI36
NG_008805.2:g.198101G>A , LRG_778:g.198101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5423-4G>A	ENSP00000453958.2:n.5423-4G>A
ENST00000674301.2:c.5423-4G>A	ENSP00000501333.2:n.5423-4G>A
ENST00000684448.1:n.4097-4G>A
ENST00000316623.10:c.5423-4G>A MANE Select	ENSP00000325527.5:n.5423-4G>A
ENST00000674301.1:c.422-4G>A	ENSP00000501333.1:n.422-4G>A
ENST00000316623.9:c.5423-4G>A	ENSP00000325527.5:n.5423-4G>A
ENST00000537463.6:c.*1186-4G>A	ENSP00000440294.2:n.*1186-4G>A
ENST00000559133.5:c.730-4G>A
NM_000138.4:c.5423-4G>A , LRG_778t1:c.5423-4G>A	NP_000129.3:n.5423-4G>A
NM_000138.5:c.5423-4G>A MANE Select	NP_000129.3:n.5423-4G>A