Canonical Allele Identifier: CA490026010

Gene: FBN1

Linked Data

• ClinVar Variation Id: 919222
• ClinVar RCV Id: RCV001177239 ; RCV004006375 ; RCV003769901
• dbSNP Id: rs1267512714
• gnomAD v2: 15-48756154-G-A
• gnomAD v3: 15-48463957-G-A
• gnomAD v4: 15-48463957-G-A
• MyVariant Identifiers: chr15:g.48756154G>A (hg19) ; chr15:g.48463957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463957G>A , CM000677.2:g.48463957G>A	GRCh38
NC_000015.9:g.48756154G>A , CM000677.1:g.48756154G>A	GRCh37
NC_000015.8:g.46543446G>A	NCBI36
NG_008805.2:g.186832C>T , LRG_778:g.186832C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5007C>T	ENSP00000453958.2:p.Asn1669=
ENST00000674301.2:c.5007C>T	ENSP00000501333.2:p.Asn1669=
ENST00000684448.1:n.3681C>T
ENST00000316623.10:c.5007C>T MANE Select	ENSP00000325527.5:p.Asn1669=
ENST00000674301.1:c.6C>T	ENSP00000501333.1:p.Asn2=
ENST00000316623.9:c.5007C>T	ENSP00000325527.5:p.Asn1669=
ENST00000537463.6:c.*770C>T	ENSP00000440294.2:n.*770C>T
ENST00000559133.5:c.314C>T
NM_000138.4:c.5007C>T , LRG_778t1:c.5007C>T	NP_000129.3:p.Asn1669=
NM_000138.5:c.5007C>T MANE Select	NP_000129.3:p.Asn1669=