Canonical Allele Identifier: CA713403309

Gene: FBN1

Linked Data

• dbSNP Id: rs1201705671
• gnomAD v3: 15-48444954-A-G
• gnomAD v4: 15-48444954-A-G
• MyVariant Identifiers: chr15:g.48737151A>G (hg19) ; chr15:g.48444954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444954A>G , CM000677.2:g.48444954A>G	GRCh38
NC_000015.9:g.48737151A>G , CM000677.1:g.48737151A>G	GRCh37
NC_000015.8:g.46524443A>G	NCBI36
NG_008805.2:g.205835T>C , LRG_778:g.205835T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5918-294T>C	ENSP00000453958.2:n.5918-294T>C
ENST00000674301.2:c.5918-294T>C	ENSP00000501333.2:n.5918-294T>C
ENST00000684448.1:n.4592-294T>C
ENST00000316623.10:c.5918-294T>C MANE Select	ENSP00000325527.5:n.5918-294T>C
ENST00000674301.1:c.917-294T>C	ENSP00000501333.1:n.917-294T>C
ENST00000316623.9:c.5918-294T>C	ENSP00000325527.5:n.5918-294T>C
ENST00000537463.6:c.*1681-294T>C	ENSP00000440294.2:n.*1681-294T>C
ENST00000559133.5:c.1225-294T>C
ENST00000560820.1:n.38-294T>C
NM_000138.4:c.5918-294T>C , LRG_778t1:c.5918-294T>C	NP_000129.3:n.5918-294T>C
NM_000138.5:c.5918-294T>C MANE Select	NP_000129.3:n.5918-294T>C