Canonical Allele Identifier: CA2628330031

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2935392
• ClinVar RCV Id: RCV003791046
• gnomAD v4: 15-48425359-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425359T>G , CM000677.2:g.48425359T>G	GRCh38
NC_000015.9:g.48717556T>G , CM000677.1:g.48717556T>G	GRCh37
NC_000015.8:g.46504848T>G	NCBI36
NG_008805.2:g.225430A>C , LRG_778:g.225430A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*261+10A>C	ENSP00000453958.2:n.*261+10A>C
ENST00000674301.2:c.*966+10A>C	ENSP00000501333.2:n.*966+10A>C
ENST00000682170.1:n.1634+10A>C
ENST00000682767.1:n.750+10A>C
ENST00000316623.10:c.7453+10A>C MANE Select	ENSP00000325527.5:n.7453+10A>C
ENST00000674301.1:c.2619+10A>C	ENSP00000501333.1:n.2619+10A>C
ENST00000316623.9:c.7453+10A>C	ENSP00000325527.5:n.7453+10A>C
ENST00000559133.5:c.2822+10A>C
NM_000138.4:c.7453+10A>C , LRG_778t1:c.7453+10A>C	NP_000129.3:n.7453+10A>C
NM_000138.5:c.7453+10A>C MANE Select	NP_000129.3:n.7453+10A>C