Canonical Allele Identifier: CA054471

Gene: FBN1

Linked Data

• ClinVar Variation Id: 379522
• ClinVar RCV Id: RCV001191117 ; RCV002061627 ; RCV001703558 ; RCV003996026 ; RCV002265759
• dbSNP Id: rs367786211
• ExAC: 15:48752527 A / C
• gnomAD v2: 15-48752527-A-C
• gnomAD v3: 15-48460330-A-C
• gnomAD v4: 15-48460330-A-C
• MyVariant Identifiers: chr15:g.48752527A>C (hg19) ; chr15:g.48460330A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48460330A>C , CM000677.2:g.48460330A>C	GRCh38
NC_000015.9:g.48752527A>C , CM000677.1:g.48752527A>C	GRCh37
NC_000015.8:g.46539819A>C	NCBI36
NG_008805.2:g.190459T>G , LRG_778:g.190459T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5225-13T>G	ENSP00000453958.2:n.5225-13T>G
ENST00000674301.2:c.5225-13T>G	ENSP00000501333.2:n.5225-13T>G
ENST00000684448.1:n.3899-13T>G
ENST00000316623.10:c.5225-13T>G MANE Select	ENSP00000325527.5:n.5225-13T>G
ENST00000674301.1:c.224-13T>G	ENSP00000501333.1:n.224-13T>G
ENST00000316623.9:c.5225-13T>G	ENSP00000325527.5:n.5225-13T>G
ENST00000537463.6:c.*988-13T>G	ENSP00000440294.2:n.*988-13T>G
ENST00000559133.5:c.532-13T>G
NM_000138.4:c.5225-13T>G , LRG_778t1:c.5225-13T>G	NP_000129.3:n.5225-13T>G
NM_000138.5:c.5225-13T>G MANE Select	NP_000129.3:n.5225-13T>G