Canonical Allele Identifier: CA392351519

Gene: FBN1

Linked Data

• ClinVar Variation Id: 527140
• ClinVar RCV Id: RCV000631900
• dbSNP Id: rs1555397014
• MyVariant Identifiers: chr15:g.48757986C>G (hg19) ; chr15:g.48465789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48465789C>G , CM000677.2:g.48465789C>G	GRCh38
NC_000015.9:g.48757986C>G , CM000677.1:g.48757986C>G	GRCh37
NC_000015.8:g.46545278C>G	NCBI36
NG_008805.2:g.185000G>C , LRG_778:g.185000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4816+1G>C	ENSP00000453958.2:n.4816+1G>C
ENST00000674301.2:c.4816+1G>C	ENSP00000501333.2:n.4816+1G>C
ENST00000684448.1:n.3490+1G>C
ENST00000316623.10:c.4816+1G>C MANE Select	ENSP00000325527.5:n.4816+1G>C
ENST00000316623.9:c.4816+1G>C	ENSP00000325527.5:n.4816+1G>C
ENST00000537463.6:c.*579+1G>C	ENSP00000440294.2:n.*579+1G>C
ENST00000559133.5:c.123+1G>C
NM_000138.4:c.4816+1G>C , LRG_778t1:c.4816+1G>C	NP_000129.3:n.4816+1G>C
NM_000138.5:c.4816+1G>C MANE Select	NP_000129.3:n.4816+1G>C