Canonical Allele Identifier: CA269553444

Gene: FBN1

Linked Data

• dbSNP Id: rs532095627
• gnomAD v3: 15-48509077-C-T
• gnomAD v4: 15-48509077-C-T
• MyVariant Identifiers: chr15:g.48801274C>T (hg19) ; chr15:g.48509077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509077C>T , CM000677.2:g.48509077C>T	GRCh38
NC_000015.9:g.48801274C>T , CM000677.1:g.48801274C>T	GRCh37
NC_000015.8:g.46588566C>T	NCBI36
NG_008805.2:g.141712G>A , LRG_778:g.141712G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-373G>A	ENSP00000453958.2:n.1715-373G>A
ENST00000674301.2:c.1715-373G>A	ENSP00000501333.2:n.1715-373G>A
ENST00000684448.1:n.389-373G>A
ENST00000316623.10:c.1715-373G>A MANE Select	ENSP00000325527.5:n.1715-373G>A
ENST00000316623.9:c.1715-373G>A	ENSP00000325527.5:n.1715-373G>A
ENST00000537463.6:c.636+28634G>A	ENSP00000440294.2:n.636+28634G>A
NM_000138.4:c.1715-373G>A , LRG_778t1:c.1715-373G>A	NP_000129.3:n.1715-373G>A
NM_000138.5:c.1715-373G>A MANE Select	NP_000129.3:n.1715-373G>A