Canonical Allele Identifier: CA617839083

Gene: FBN1

Linked Data

• dbSNP Id: rs1256701754
• gnomAD v2: 15-48795939-G-A
• gnomAD v4: 15-48503742-G-A
• MyVariant Identifiers: chr15:g.48795939G>A (hg19) ; chr15:g.48503742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503742G>A , CM000677.2:g.48503742G>A	GRCh38
NC_000015.9:g.48795939G>A , CM000677.1:g.48795939G>A	GRCh37
NC_000015.8:g.46583231G>A	NCBI36
NG_008805.2:g.147047C>T , LRG_778:g.147047C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2113+45C>T	ENSP00000453958.2:n.2113+45C>T
ENST00000674301.2:c.2113+45C>T	ENSP00000501333.2:n.2113+45C>T
ENST00000684448.1:n.787+45C>T
ENST00000316623.10:c.2113+45C>T MANE Select	ENSP00000325527.5:n.2113+45C>T
ENST00000316623.9:c.2113+45C>T	ENSP00000325527.5:n.2113+45C>T
ENST00000537463.6:c.637-29092C>T	ENSP00000440294.2:n.637-29092C>T
NM_000138.4:c.2113+45C>T , LRG_778t1:c.2113+45C>T	NP_000129.3:n.2113+45C>T
NM_000138.5:c.2113+45C>T MANE Select	NP_000129.3:n.2113+45C>T