Canonical Allele Identifier: CA269532797

Gene: FBN1

Linked Data

• ClinVar Variation Id: 828137
• ClinVar RCV Id: RCV001028009 ; RCV001862419
• dbSNP Id: rs363808
• MyVariant Identifiers: chr15:g.48737572C>A (hg19) ; chr15:g.48445375C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445375C>A , CM000677.2:g.48445375C>A	GRCh38
NC_000015.9:g.48737572C>A , CM000677.1:g.48737572C>A	GRCh37
NC_000015.8:g.46524864C>A	NCBI36
NG_008805.2:g.205414G>T , LRG_778:g.205414G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+1G>T	ENSP00000453958.2:n.5917+1G>T
ENST00000674301.2:c.5917+1G>T	ENSP00000501333.2:n.5917+1G>T
ENST00000684448.1:n.4591+1G>T
ENST00000316623.10:c.5917+1G>T MANE Select	ENSP00000325527.5:n.5917+1G>T
ENST00000674301.1:c.916+1G>T	ENSP00000501333.1:n.916+1G>T
ENST00000316623.9:c.5917+1G>T	ENSP00000325527.5:n.5917+1G>T
ENST00000537463.6:c.*1680+1G>T	ENSP00000440294.2:n.*1680+1G>T
ENST00000559133.5:c.1224+1G>T
ENST00000560820.1:n.37+1G>T
NM_000138.4:c.5917+1G>T , LRG_778t1:c.5917+1G>T	NP_000129.3:n.5917+1G>T
NM_000138.5:c.5917+1G>T MANE Select	NP_000129.3:n.5917+1G>T