Canonical Allele Identifier: CA051096

Gene: FBN1

Linked Data

• ClinVar Variation Id: 222603
• ClinVar RCV Id: RCV000208111 ; RCV000989326 ; RCV000799739 ; RCV001184036
• dbSNP Id: rs370121450
• ExAC: 15:48779290 C / T
• gnomAD v2: 15-48779290-C-T
• gnomAD v3: 15-48487093-C-T
• gnomAD v4: 15-48487093-C-T
• COSMIC: COSM962393
• MyVariant Identifiers: chr15:g.48779290C>T (hg19) ; chr15:g.48487093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487093C>T , CM000677.2:g.48487093C>T	GRCh38
NC_000015.9:g.48779290C>T , CM000677.1:g.48779290C>T	GRCh37
NC_000015.8:g.46566582C>T	NCBI36
NG_008805.2:g.163696G>A , LRG_778:g.163696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3571G>A	ENSP00000453958.2:p.Asp1191Asn
ENST00000674301.2:c.3571G>A	ENSP00000501333.2:p.Asp1191Asn
ENST00000684448.1:n.2245G>A
ENST00000316623.10:c.3571G>A MANE Select	ENSP00000325527.5:p.Asp1191Asn
ENST00000316623.9:c.3571G>A	ENSP00000325527.5:p.Asp1191Asn
ENST00000537463.6:c.637-12443G>A	ENSP00000440294.2:n.637-12443G>A
NM_000138.4:c.3571G>A , LRG_778t1:c.3571G>A	NP_000129.3:p.Asp1191Asn
NM_000138.5:c.3571G>A MANE Select	NP_000129.3:p.Asp1191Asn