Canonical Allele Identifier: CA056776

Gene: FBN1

Linked Data

• dbSNP Id: rs779072283
• ExAC: 15:48729227 T / A
• gnomAD v2: 15-48729227-T-A
• gnomAD v4: 15-48437030-T-A
• MyVariant Identifiers: chr15:g.48729227T>A (hg19) ; chr15:g.48437030T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437030T>A , CM000677.2:g.48437030T>A	GRCh38
NC_000015.9:g.48729227T>A , CM000677.1:g.48729227T>A	GRCh37
NC_000015.8:g.46516519T>A	NCBI36
NG_008805.2:g.213759A>T , LRG_778:g.213759A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6427A>T	ENSP00000453958.2:p.Ile2143Phe
ENST00000674301.2:c.6427A>T	ENSP00000501333.2:p.Ile2143Phe
ENST00000682170.1:n.36A>T
ENST00000316623.10:c.6427A>T MANE Select	ENSP00000325527.5:p.Ile2143Phe
ENST00000674301.1:c.1426A>T	ENSP00000501333.1:p.Ile476Phe
ENST00000316623.9:c.6427A>T	ENSP00000325527.5:p.Ile2143Phe
ENST00000537463.6:c.*2190A>T	ENSP00000440294.2:n.*2190A>T
ENST00000559133.5:c.1734A>T
NM_000138.4:c.6427A>T , LRG_778t1:c.6427A>T	NP_000129.3:p.Ile2143Phe
NM_000138.5:c.6427A>T MANE Select	NP_000129.3:p.Ile2143Phe