Canonical Allele Identifier: CA490017821

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2949076
• ClinVar RCV Id: RCV003801802
• gnomAD v4: 15-48428389-A-G
• MyVariant Identifiers: chr15:g.48720586A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428389A>G , CM000677.2:g.48428389A>G	GRCh38
NC_000015.9:g.48720586A>G , CM000677.1:g.48720586A>G	GRCh37
NC_000015.8:g.46507878A>G	NCBI36
NG_008805.2:g.222400T>C , LRG_778:g.222400T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6954T>C	ENSP00000453958.2:p.Cys2318=
ENST00000674301.2:c.*405T>C	ENSP00000501333.2:n.*405T>C
ENST00000682170.1:n.563T>C
ENST00000682767.1:n.189T>C
ENST00000316623.10:c.6954T>C MANE Select	ENSP00000325527.5:p.Cys2318=
ENST00000674301.1:c.2058T>C	ENSP00000501333.1:n.2058T>C
ENST00000316623.9:c.6954T>C	ENSP00000325527.5:p.Cys2318=
ENST00000559133.5:c.2261T>C
ENST00000560720.1:n.241T>C
NM_000138.4:c.6954T>C , LRG_778t1:c.6954T>C	NP_000129.3:p.Cys2318=
NM_000138.5:c.6954T>C MANE Select	NP_000129.3:p.Cys2318=