Canonical Allele Identifier: CA618009218

Gene: FBN1

Linked Data

• dbSNP Id: rs1470302916
• gnomAD v2: 15-48713913-T-A
• gnomAD v3: 15-48421716-T-A
• gnomAD v4: 15-48421716-T-A
• MyVariant Identifiers: chr15:g.48713913T>A (hg19) ; chr15:g.48421716T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421716T>A , CM000677.2:g.48421716T>A	GRCh38
NC_000015.9:g.48713913T>A , CM000677.1:g.48713913T>A	GRCh37
NC_000015.8:g.46501205T>A	NCBI36
NG_008805.2:g.229073A>T , LRG_778:g.229073A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-30A>T	ENSP00000453958.2:n.*379-30A>T
ENST00000674301.2:c.*1084-30A>T	ENSP00000501333.2:n.*1084-30A>T
ENST00000682170.1:n.1752-30A>T
ENST00000682767.1:n.868-30A>T
ENST00000316623.10:c.7571-30A>T MANE Select	ENSP00000325527.5:n.7571-30A>T
ENST00000674301.1:c.2737-30A>T	ENSP00000501333.1:n.2737-30A>T
ENST00000316623.9:c.7571-30A>T	ENSP00000325527.5:n.7571-30A>T
ENST00000559133.5:c.2940-30A>T
NM_000138.4:c.7571-30A>T , LRG_778t1:c.7571-30A>T	NP_000129.3:n.7571-30A>T
NM_000138.5:c.7571-30A>T MANE Select	NP_000129.3:n.7571-30A>T