Canonical Allele Identifier: CA392354872

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457210
• ClinVar RCV Id: RCV000557265
• dbSNP Id: rs794728216
• MyVariant Identifiers: chr15:g.48762955T>A (hg19) ; chr15:g.48470758T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48470758T>A , CM000677.2:g.48470758T>A	GRCh38
NC_000015.9:g.48762955T>A , CM000677.1:g.48762955T>A	GRCh37
NC_000015.8:g.46550247T>A	NCBI36
NG_008805.2:g.180031A>T , LRG_778:g.180031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4337-2A>T	ENSP00000453958.2:n.4337-2A>T
ENST00000674301.2:c.4337-2A>T	ENSP00000501333.2:n.4337-2A>T
ENST00000683268.1:n.304-2A>T
ENST00000684448.1:n.3011-2A>T
ENST00000316623.10:c.4337-2A>T MANE Select	ENSP00000325527.5:n.4337-2A>T
ENST00000316623.9:c.4337-2A>T	ENSP00000325527.5:n.4337-2A>T
ENST00000537463.6:c.*100-2A>T	ENSP00000440294.2:n.*100-2A>T
NM_000138.4:c.4337-2A>T , LRG_778t1:c.4337-2A>T	NP_000129.3:n.4337-2A>T
NM_000138.5:c.4337-2A>T MANE Select	NP_000129.3:n.4337-2A>T