Canonical Allele Identifier: CA016962

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200102
• ClinVar RCV Id: RCV000181588 ; RCV000631985 ; RCV000766957 ; RCV000659575 ; RCV001526099
• dbSNP Id: rs746127796
• ExAC: 15:48719917 C / T
• gnomAD v2: 15-48719917-C-T
• gnomAD v3: 15-48427720-C-T
• gnomAD v4: 15-48427720-C-T
• COSMIC: COSM6001825
• MyVariant Identifiers: chr15:g.48719917C>T (hg19) ; chr15:g.48427720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427720C>T , CM000677.2:g.48427720C>T	GRCh38
NC_000015.9:g.48719917C>T , CM000677.1:g.48719917C>T	GRCh37
NC_000015.8:g.46507209C>T	NCBI36
NG_008805.2:g.223069G>A , LRG_778:g.223069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.7113G>A	ENSP00000453958.2:p.Ser2371=
ENST00000674301.2:c.*564G>A	ENSP00000501333.2:n.*564G>A
ENST00000682170.1:n.1232G>A
ENST00000682767.1:n.348G>A
ENST00000316623.10:c.7051G>A MANE Select	ENSP00000325527.5:p.Gly2351Ser
ENST00000674301.1:c.2217G>A	ENSP00000501333.1:n.2217G>A
ENST00000316623.9:c.7051G>A	ENSP00000325527.5:p.Gly2351Ser
ENST00000559133.5:c.2420G>A
NM_000138.4:c.7051G>A , LRG_778t1:c.7051G>A	NP_000129.3:p.Gly2351Ser
NM_000138.5:c.7051G>A MANE Select	NP_000129.3:p.Gly2351Ser