Canonical Allele Identifier: CA392351462

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457225
• ClinVar RCV Id: RCV000560148 ; RCV002330832
• dbSNP Id: rs1555397008
• COSMIC: COSM3700967
• MyVariant Identifiers: chr15:g.48757892T>C (hg19) ; chr15:g.48465695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48465695T>C , CM000677.2:g.48465695T>C	GRCh38
NC_000015.9:g.48757892T>C , CM000677.1:g.48757892T>C	GRCh37
NC_000015.8:g.46545184T>C	NCBI36
NG_008805.2:g.185094A>G , LRG_778:g.185094A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4817-2A>G	ENSP00000453958.2:n.4817-2A>G
ENST00000674301.2:c.4817-2A>G	ENSP00000501333.2:n.4817-2A>G
ENST00000684448.1:n.3491-2A>G
ENST00000316623.10:c.4817-2A>G MANE Select	ENSP00000325527.5:n.4817-2A>G
ENST00000316623.9:c.4817-2A>G	ENSP00000325527.5:n.4817-2A>G
ENST00000537463.6:c.*580-2A>G	ENSP00000440294.2:n.*580-2A>G
ENST00000559133.5:c.124-2A>G
NM_000138.4:c.4817-2A>G , LRG_778t1:c.4817-2A>G	NP_000129.3:n.4817-2A>G
NM_000138.5:c.4817-2A>G MANE Select	NP_000129.3:n.4817-2A>G