Canonical Allele Identifier: CA617841874

Gene: FBN1

Linked Data

• dbSNP Id: rs1340007466
• gnomAD v2: 15-48826244-C-T
• gnomAD v4: 15-48534047-C-T
• MyVariant Identifiers: chr15:g.48826244C>T (hg19) ; chr15:g.48534047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48534047C>T , CM000677.2:g.48534047C>T	GRCh38
NC_000015.9:g.48826244C>T , CM000677.1:g.48826244C>T	GRCh37
NC_000015.8:g.46613536C>T	NCBI36
NG_008805.2:g.116742G>A , LRG_778:g.116742G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.862+33G>A	ENSP00000453958.2:n.862+33G>A
ENST00000674301.2:c.862+33G>A	ENSP00000501333.2:n.862+33G>A
ENST00000316623.10:c.862+33G>A MANE Select	ENSP00000325527.5:n.862+33G>A
ENST00000316623.9:c.862+33G>A	ENSP00000325527.5:n.862+33G>A
ENST00000537463.6:c.636+3664G>A	ENSP00000440294.2:n.636+3664G>A
NM_000138.4:c.862+33G>A , LRG_778t1:c.862+33G>A	NP_000129.3:n.862+33G>A
NM_000138.5:c.862+33G>A MANE Select	NP_000129.3:n.862+33G>A