Canonical Allele Identifier: CA658683886

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495633
• ClinVar RCV Id: RCV000588957 ; RCV002061972
• dbSNP Id: rs1555395223
• gnomAD v4: 15-48437313-G-A
• MyVariant Identifiers: chr15:g.48729510G>A (hg19) ; chr15:g.48437313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437313G>A , CM000677.2:g.48437313G>A	GRCh38
NC_000015.9:g.48729510G>A , CM000677.1:g.48729510G>A	GRCh37
NC_000015.8:g.46516802G>A	NCBI36
NG_008805.2:g.213476C>T , LRG_778:g.213476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6379+9C>T	ENSP00000453958.2:n.6379+9C>T
ENST00000674301.2:c.6379+9C>T	ENSP00000501333.2:n.6379+9C>T
ENST00000316623.10:c.6379+9C>T MANE Select	ENSP00000325527.5:n.6379+9C>T
ENST00000674301.1:c.1378+9C>T	ENSP00000501333.1:n.1378+9C>T
ENST00000316623.9:c.6379+9C>T	ENSP00000325527.5:n.6379+9C>T
ENST00000537463.6:c.*2142+9C>T	ENSP00000440294.2:n.*2142+9C>T
ENST00000559133.5:c.1686+9C>T
NM_000138.4:c.6379+9C>T , LRG_778t1:c.6379+9C>T	NP_000129.3:n.6379+9C>T
NM_000138.5:c.6379+9C>T MANE Select	NP_000129.3:n.6379+9C>T