Canonical Allele Identifier: CA052741

Gene: FBN1

Linked Data

• ClinVar Variation Id: 888468
• ClinVar RCV Id: RCV001121791 ; RCV001121792 ; RCV001121793 ; RCV001121794 ; RCV001121795 ; RCV001121796 ; RCV001121797
• dbSNP Id: rs144710695
• ExAC: 15:48703144 T / A
• gnomAD v2: 15-48703144-T-A
• gnomAD v3: 15-48410947-T-A
• gnomAD v4: 15-48410947-T-A
• MyVariant Identifiers: chr15:g.48703144T>A (hg19) ; chr15:g.48410947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410947T>A , CM000677.2:g.48410947T>A	GRCh38
NC_000015.9:g.48703144T>A , CM000677.1:g.48703144T>A	GRCh37
NC_000015.8:g.46490436T>A	NCBI36
NG_008805.2:g.239842A>T , LRG_778:g.239842A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1467A>T	ENSP00000453958.2:n.*1467A>T
ENST00000682158.1:n.2040A>T
ENST00000682170.1:n.2840A>T
ENST00000682767.1:n.1956A>T
ENST00000316623.10:c.*43A>T MANE Select	ENSP00000325527.5:n.*43A>T
ENST00000316623.9:c.*43A>T	ENSP00000325527.5:n.*43A>T
ENST00000559133.5:c.4028A>T
NM_000138.4:c.*43A>T , LRG_778t1:c.*43A>T	NP_000129.3:n.*43A>T
NM_000138.5:c.*43A>T MANE Select	NP_000129.3:n.*43A>T