Canonical Allele Identifier: CA392328982

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457186
• ClinVar RCV Id: RCV000554330 ; RCV000663596 ; RCV000769642
• dbSNP Id: rs1267721327
• gnomAD v2: 15-48782099-C-T
• gnomAD v3: 15-48489902-C-T
• gnomAD v4: 15-48489902-C-T
• MyVariant Identifiers: chr15:g.48782099C>T (hg19) ; chr15:g.48489902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489902C>T , CM000677.2:g.48489902C>T	GRCh38
NC_000015.9:g.48782099C>T , CM000677.1:g.48782099C>T	GRCh37
NC_000015.8:g.46569391C>T	NCBI36
NG_008805.2:g.160887G>A , LRG_778:g.160887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3031G>A	ENSP00000453958.2:p.Gly1011Arg
ENST00000674301.2:c.3031G>A	ENSP00000501333.2:p.Gly1011Arg
ENST00000684448.1:n.1705G>A
ENST00000316623.10:c.3031G>A MANE Select	ENSP00000325527.5:p.Gly1011Arg
ENST00000316623.9:c.3031G>A	ENSP00000325527.5:p.Gly1011Arg
ENST00000537463.6:c.637-15252G>A	ENSP00000440294.2:n.637-15252G>A
NM_000138.4:c.3031G>A , LRG_778t1:c.3031G>A	NP_000129.3:p.Gly1011Arg
NM_000138.5:c.3031G>A MANE Select	NP_000129.3:p.Gly1011Arg