Canonical Allele Identifier: CA969545096

Gene: FBN1

Linked Data

• dbSNP Id: rs2043048605
• gnomAD v3: 15-48434477-C-T
• gnomAD v4: 15-48434477-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434477C>T , CM000677.2:g.48434477C>T	GRCh38
NC_000015.9:g.48726674C>T , CM000677.1:g.48726674C>T	GRCh37
NC_000015.8:g.46513966C>T	NCBI36
NG_008805.2:g.216312G>A , LRG_778:g.216312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+117G>A	ENSP00000453958.2:n.6616+117G>A
ENST00000674301.2:c.6616+117G>A	ENSP00000501333.2:n.6616+117G>A
ENST00000682170.1:n.225+117G>A
ENST00000316623.10:c.6616+117G>A MANE Select	ENSP00000325527.5:n.6616+117G>A
ENST00000674301.1:c.1615+117G>A	ENSP00000501333.1:n.1615+117G>A
ENST00000316623.9:c.6616+117G>A	ENSP00000325527.5:n.6616+117G>A
ENST00000537463.6:c.*2379+117G>A	ENSP00000440294.2:n.*2379+117G>A
ENST00000559133.5:c.1923+117G>A
NM_000138.4:c.6616+117G>A , LRG_778t1:c.6616+117G>A	NP_000129.3:n.6616+117G>A
NM_000138.5:c.6616+117G>A MANE Select	NP_000129.3:n.6616+117G>A