Canonical Allele Identifier: CA269518738

Gene: FBN1

Linked Data

• dbSNP Id: rs564919605
• gnomAD v3: 15-48412844-A-C
• gnomAD v4: 15-48412844-A-C
• MyVariant Identifiers: chr15:g.48705041A>C (hg19) ; chr15:g.48412844A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412844A>C , CM000677.2:g.48412844A>C	GRCh38
NC_000015.9:g.48705041A>C , CM000677.1:g.48705041A>C	GRCh37
NC_000015.8:g.46492333A>C	NCBI36
NG_008805.2:g.237945T>G , LRG_778:g.237945T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-101T>G	ENSP00000453958.2:n.*860-101T>G
ENST00000674301.2:c.*1565-101T>G	ENSP00000501333.2:n.*1565-101T>G
ENST00000682158.1:n.1433-101T>G
ENST00000682170.1:n.2233-101T>G
ENST00000682767.1:n.1349-101T>G
ENST00000316623.10:c.8052-101T>G MANE Select	ENSP00000325527.5:n.8052-101T>G
ENST00000674301.1:c.3218-101T>G	ENSP00000501333.1:n.3218-101T>G
ENST00000316623.9:c.8052-101T>G	ENSP00000325527.5:n.8052-101T>G
ENST00000559133.5:c.3421-101T>G
ENST00000561429.1:n.307-101T>G
NM_000138.4:c.8052-101T>G , LRG_778t1:c.8052-101T>G	NP_000129.3:n.8052-101T>G
NM_000138.5:c.8052-101T>G MANE Select	NP_000129.3:n.8052-101T>G