Canonical Allele Identifier: CA490022022

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2078875
• ClinVar RCV Id: RCV002988863
• dbSNP Id: rs2043139799
• gnomAD v3: 15-48444589-T-G
• gnomAD v4: 15-48444589-T-G
• MyVariant Identifiers: chr15:g.48736786T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444589T>G , CM000677.2:g.48444589T>G	GRCh38
NC_000015.9:g.48736786T>G , CM000677.1:g.48736786T>G	GRCh37
NC_000015.8:g.46524078T>G	NCBI36
NG_008805.2:g.206200A>C , LRG_778:g.206200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5989A>C	ENSP00000453958.2:p.Arg1997=
ENST00000674301.2:c.5989A>C	ENSP00000501333.2:p.Arg1997=
ENST00000684448.1:n.4663A>C
ENST00000316623.10:c.5989A>C MANE Select	ENSP00000325527.5:p.Arg1997=
ENST00000674301.1:c.988A>C	ENSP00000501333.1:p.Arg330=
ENST00000316623.9:c.5989A>C	ENSP00000325527.5:p.Arg1997=
ENST00000537463.6:c.*1752A>C	ENSP00000440294.2:n.*1752A>C
ENST00000559133.5:c.1296A>C
ENST00000560820.1:n.109A>C
NM_000138.4:c.5989A>C , LRG_778t1:c.5989A>C	NP_000129.3:p.Arg1997=
NM_000138.5:c.5989A>C MANE Select	NP_000129.3:p.Arg1997=