Canonical Allele Identifier: CA713388218

Gene: FBN1

Linked Data

• dbSNP Id: rs1273257868
• gnomAD v4: 15-48489709-C-T
• MyVariant Identifiers: chr15:g.48781906C>T (hg19) ; chr15:g.48489709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489709C>T , CM000677.2:g.48489709C>T	GRCh38
NC_000015.9:g.48781906C>T , CM000677.1:g.48781906C>T	GRCh37
NC_000015.8:g.46569198C>T	NCBI36
NG_008805.2:g.161080G>A , LRG_778:g.161080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+142G>A	ENSP00000453958.2:n.3082+142G>A
ENST00000674301.2:c.3082+142G>A	ENSP00000501333.2:n.3082+142G>A
ENST00000684448.1:n.1756+142G>A
ENST00000316623.10:c.3082+142G>A MANE Select	ENSP00000325527.5:n.3082+142G>A
ENST00000316623.9:c.3082+142G>A	ENSP00000325527.5:n.3082+142G>A
ENST00000537463.6:c.637-15059G>A	ENSP00000440294.2:n.637-15059G>A
NM_000138.4:c.3082+142G>A , LRG_778t1:c.3082+142G>A	NP_000129.3:n.3082+142G>A
NM_000138.5:c.3082+142G>A MANE Select	NP_000129.3:n.3082+142G>A