Canonical Allele Identifier: CA969562046

Gene: FBN1

Linked Data

• dbSNP Id: rs1218157130
• gnomAD v3: 15-48474853-C-A
• gnomAD v4: 15-48474853-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474853C>A , CM000677.2:g.48474853C>A	GRCh38
NC_000015.9:g.48767050C>A , CM000677.1:g.48767050C>A	GRCh37
NC_000015.8:g.46554342C>A	NCBI36
NG_008805.2:g.175936G>T , LRG_778:g.175936G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3965-203G>T	ENSP00000453958.2:n.3965-203G>T
ENST00000674301.2:c.3965-203G>T	ENSP00000501333.2:n.3965-203G>T
ENST00000684448.1:n.2639-203G>T
ENST00000316623.10:c.3965-203G>T MANE Select	ENSP00000325527.5:n.3965-203G>T
ENST00000316623.9:c.3965-203G>T	ENSP00000325527.5:n.3965-203G>T
ENST00000537463.6:c.637-203G>T	ENSP00000440294.2:n.637-203G>T
NM_000138.4:c.3965-203G>T , LRG_778t1:c.3965-203G>T	NP_000129.3:n.3965-203G>T
NM_000138.5:c.3965-203G>T MANE Select	NP_000129.3:n.3965-203G>T