Canonical Allele Identifier: CA10587830

Gene: FBN1

Linked Data

• ClinVar Variation Id: 264533
• ClinVar RCV Id: RCV002311204
• dbSNP Id: rs755085498
• gnomAD v4: 15-48472571-G-A
• MyVariant Identifiers: chr15:g.48764768G>A (hg19) ; chr15:g.48472571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472571G>A , CM000677.2:g.48472571G>A	GRCh38
NC_000015.9:g.48764768G>A , CM000677.1:g.48764768G>A	GRCh37
NC_000015.8:g.46552060G>A	NCBI36
NG_008805.2:g.178218C>T , LRG_778:g.178218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4316C>T	ENSP00000453958.2:p.Ala1439Val
ENST00000674301.2:c.4316C>T	ENSP00000501333.2:p.Ala1439Val
ENST00000683268.1:n.283C>T
ENST00000684448.1:n.2990C>T
ENST00000316623.10:c.4316C>T MANE Select	ENSP00000325527.5:p.Ala1439Val
ENST00000316623.9:c.4316C>T	ENSP00000325527.5:p.Ala1439Val
ENST00000537463.6:c.*79C>T	ENSP00000440294.2:n.*79C>T
NM_000138.4:c.4316C>T , LRG_778t1:c.4316C>T	NP_000129.3:p.Ala1439Val
NM_000138.5:c.4316C>T MANE Select	NP_000129.3:p.Ala1439Val