Canonical Allele Identifier: CA617837344

Gene: FBN1

Linked Data

• dbSNP Id: rs1462642973
• gnomAD v2: 15-48787285-A-C
• gnomAD v4: 15-48495088-A-C
• MyVariant Identifiers: chr15:g.48787285A>C (hg19) ; chr15:g.48495088A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48495088A>C , CM000677.2:g.48495088A>C	GRCh38
NC_000015.9:g.48787285A>C , CM000677.1:g.48787285A>C	GRCh37
NC_000015.8:g.46574577A>C	NCBI36
NG_008805.2:g.155701T>G , LRG_778:g.155701T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2677+35T>G	ENSP00000453958.2:n.2677+35T>G
ENST00000674301.2:c.2677+35T>G	ENSP00000501333.2:n.2677+35T>G
ENST00000684448.1:n.1351+35T>G
ENST00000316623.10:c.2677+35T>G MANE Select	ENSP00000325527.5:n.2677+35T>G
ENST00000316623.9:c.2677+35T>G	ENSP00000325527.5:n.2677+35T>G
ENST00000537463.6:c.637-20438T>G	ENSP00000440294.2:n.637-20438T>G
NM_000138.4:c.2677+35T>G , LRG_778t1:c.2677+35T>G	NP_000129.3:n.2677+35T>G
NM_000138.5:c.2677+35T>G MANE Select	NP_000129.3:n.2677+35T>G