Canonical Allele Identifier: CA2628332541

Gene: FBN1

Linked Data

• gnomAD v4: 15-48434457-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434457T>A , CM000677.2:g.48434457T>A	GRCh38
NC_000015.9:g.48726654T>A , CM000677.1:g.48726654T>A	GRCh37
NC_000015.8:g.46513946T>A	NCBI36
NG_008805.2:g.216332A>T , LRG_778:g.216332A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+137A>T	ENSP00000453958.2:n.6616+137A>T
ENST00000674301.2:c.6616+137A>T	ENSP00000501333.2:n.6616+137A>T
ENST00000682170.1:n.225+137A>T
ENST00000316623.10:c.6616+137A>T MANE Select	ENSP00000325527.5:n.6616+137A>T
ENST00000674301.1:c.1615+137A>T	ENSP00000501333.1:n.1615+137A>T
ENST00000316623.9:c.6616+137A>T	ENSP00000325527.5:n.6616+137A>T
ENST00000537463.6:c.*2379+137A>T	ENSP00000440294.2:n.*2379+137A>T
ENST00000559133.5:c.1923+137A>T
NM_000138.4:c.6616+137A>T , LRG_778t1:c.6616+137A>T	NP_000129.3:n.6616+137A>T
NM_000138.5:c.6616+137A>T MANE Select	NP_000129.3:n.6616+137A>T