Canonical Allele Identifier: CA015592

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42378
• ClinVar RCV Id: RCV000035219
• dbSNP Id: rs397515819
• MyVariant Identifiers: chr15:g.48755438C>G (hg19) ; chr15:g.48463241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463241C>G , CM000677.2:g.48463241C>G	GRCh38
NC_000015.9:g.48755438C>G , CM000677.1:g.48755438C>G	GRCh37
NC_000015.8:g.46542730C>G	NCBI36
NG_008805.2:g.187548G>C , LRG_778:g.187548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5066-1G>C	ENSP00000453958.2:n.5066-1G>C
ENST00000674301.2:c.5066-1G>C	ENSP00000501333.2:n.5066-1G>C
ENST00000684448.1:n.3740-1G>C
ENST00000316623.10:c.5066-1G>C MANE Select	ENSP00000325527.5:n.5066-1G>C
ENST00000674301.1:c.65-1G>C	ENSP00000501333.1:n.65-1G>C
ENST00000316623.9:c.5066-1G>C	ENSP00000325527.5:n.5066-1G>C
ENST00000537463.6:c.*829-1G>C	ENSP00000440294.2:n.*829-1G>C
ENST00000559133.5:c.373-1G>C
NM_000138.4:c.5066-1G>C , LRG_778t1:c.5066-1G>C	NP_000129.3:n.5066-1G>C
NM_000138.5:c.5066-1G>C MANE Select	NP_000129.3:n.5066-1G>C