Canonical Allele Identifier: CA054126

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406339
• ClinVar RCV Id: RCV000466201 ; RCV001185791 ; RCV001000163 ; RCV002481399 ; RCV004000736 ; RCV003235219
• dbSNP Id: rs140626
• ExAC: 15:48756162 C / T
• gnomAD v2: 15-48756162-C-T
• gnomAD v3: 15-48463965-C-T
• gnomAD v4: 15-48463965-C-T
• COSMIC: COSM5498161
• MyVariant Identifiers: chr15:g.48756162C>T (hg19) ; chr15:g.48463965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463965C>T , CM000677.2:g.48463965C>T	GRCh38
NC_000015.9:g.48756162C>T , CM000677.1:g.48756162C>T	GRCh37
NC_000015.8:g.46543454C>T	NCBI36
NG_008805.2:g.186824G>A , LRG_778:g.186824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4999G>A	ENSP00000453958.2:p.Val1667Ile
ENST00000674301.2:c.4999G>A	ENSP00000501333.2:p.Val1667Ile
ENST00000684448.1:n.3673G>A
ENST00000316623.10:c.4999G>A MANE Select	ENSP00000325527.5:p.Val1667Ile
ENST00000316623.9:c.4999G>A	ENSP00000325527.5:p.Val1667Ile
ENST00000537463.6:c.*762G>A	ENSP00000440294.2:n.*762G>A
ENST00000559133.5:c.306G>A
NM_000138.4:c.4999G>A , LRG_778t1:c.4999G>A	NP_000129.3:p.Val1667Ile
NM_000138.5:c.4999G>A MANE Select	NP_000129.3:p.Val1667Ile