Canonical Allele Identifier: CA269532937

Gene: FBN1

Linked Data

• dbSNP Id: rs975957092
• gnomAD v2: 15-48737782-A-T
• gnomAD v3: 15-48445585-A-T
• gnomAD v4: 15-48445585-A-T
• MyVariant Identifiers: chr15:g.48737782A>T (hg19) ; chr15:g.48445585A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445585A>T , CM000677.2:g.48445585A>T	GRCh38
NC_000015.9:g.48737782A>T , CM000677.1:g.48737782A>T	GRCh37
NC_000015.8:g.46525074A>T	NCBI36
NG_008805.2:g.205204T>A , LRG_778:g.205204T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-81T>A	ENSP00000453958.2:n.5789-81T>A
ENST00000674301.2:c.5789-81T>A	ENSP00000501333.2:n.5789-81T>A
ENST00000684448.1:n.4463-81T>A
ENST00000316623.10:c.5789-81T>A MANE Select	ENSP00000325527.5:n.5789-81T>A
ENST00000674301.1:c.788-81T>A	ENSP00000501333.1:n.788-81T>A
ENST00000316623.9:c.5789-81T>A	ENSP00000325527.5:n.5789-81T>A
ENST00000537463.6:c.*1552-81T>A	ENSP00000440294.2:n.*1552-81T>A
ENST00000559133.5:c.1096-81T>A
NM_000138.4:c.5789-81T>A , LRG_778t1:c.5789-81T>A	NP_000129.3:n.5789-81T>A
NM_000138.5:c.5789-81T>A MANE Select	NP_000129.3:n.5789-81T>A