Canonical Allele Identifier: CA012746

Gene: FBN1

Linked Data

• ClinVar Variation Id: 161242
• ClinVar RCV Id: RCV000148498 ; RCV001209766 ; RCV001177402 ; RCV001588997 ; RCV002478411
• dbSNP Id: rs377621293
• ExAC: 15:48796041 C / T
• gnomAD v2: 15-48796041-C-T
• gnomAD v3: 15-48503844-C-T
• gnomAD v4: 15-48503844-C-T
• MyVariant Identifiers: chr15:g.48796041C>T (hg19) ; chr15:g.48503844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503844C>T , CM000677.2:g.48503844C>T	GRCh38
NC_000015.9:g.48796041C>T , CM000677.1:g.48796041C>T	GRCh37
NC_000015.8:g.46583333C>T	NCBI36
NG_008805.2:g.146945G>A , LRG_778:g.146945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2056G>A	ENSP00000453958.2:p.Ala686Thr
ENST00000674301.2:c.2056G>A	ENSP00000501333.2:p.Ala686Thr
ENST00000684448.1:n.730G>A
ENST00000316623.10:c.2056G>A MANE Select	ENSP00000325527.5:p.Ala686Thr
ENST00000316623.9:c.2056G>A	ENSP00000325527.5:p.Ala686Thr
ENST00000537463.6:c.637-29194G>A	ENSP00000440294.2:n.637-29194G>A
NM_000138.4:c.2056G>A , LRG_778t1:c.2056G>A	NP_000129.3:p.Ala686Thr
NM_000138.5:c.2056G>A MANE Select	NP_000129.3:p.Ala686Thr