Canonical Allele Identifier: CA048830

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519754
• ClinVar RCV Id: RCV000781376 ; RCV001180582 ; RCV001558691 ; RCV001868123 ; RCV002483728 ; RCV004002724
• dbSNP Id: rs149681175
• ExAC: 15:48784739 G / C
• gnomAD v2: 15-48784739-G-C
• gnomAD v3: 15-48492542-G-C
• gnomAD v4: 15-48492542-G-C
• MyVariant Identifiers: chr15:g.48784739G>C (hg19) ; chr15:g.48492542G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492542G>C , CM000677.2:g.48492542G>C	GRCh38
NC_000015.9:g.48784739G>C , CM000677.1:g.48784739G>C	GRCh37
NC_000015.8:g.46572031G>C	NCBI36
NG_008805.2:g.158247C>G , LRG_778:g.158247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2773C>G	ENSP00000453958.2:p.Leu925Val
ENST00000674301.2:c.2773C>G	ENSP00000501333.2:p.Leu925Val
ENST00000684448.1:n.1447C>G
ENST00000316623.10:c.2773C>G MANE Select	ENSP00000325527.5:p.Leu925Val
ENST00000316623.9:c.2773C>G	ENSP00000325527.5:p.Leu925Val
ENST00000537463.6:c.637-17892C>G	ENSP00000440294.2:n.637-17892C>G
NM_000138.4:c.2773C>G , LRG_778t1:c.2773C>G	NP_000129.3:p.Leu925Val
NM_000138.5:c.2773C>G MANE Select	NP_000129.3:p.Leu925Val