Canonical Allele Identifier: CA10647082

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316345
• ClinVar RCV Id: RCV000275807 ; RCV000293685 ; RCV000333566 ; RCV000336915 ; RCV000375442 ; RCV000381977 ; RCV000385769
• dbSNP Id: rs56024388
• gnomAD v2: 15-48702220-G-A
• gnomAD v3: 15-48410023-G-A
• gnomAD v4: 15-48410023-G-A
• MyVariant Identifiers: chr15:g.48702220G>A (hg19) ; chr15:g.48410023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410023G>A , CM000677.2:g.48410023G>A	GRCh38
NC_000015.9:g.48702220G>A , CM000677.1:g.48702220G>A	GRCh37
NC_000015.8:g.46489512G>A	NCBI36
NG_008805.2:g.240766C>T , LRG_778:g.240766C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.3764C>T
ENST00000682767.1:n.2880C>T
ENST00000316623.10:c.*967C>T MANE Select	ENSP00000325527.5:n.*967C>T
ENST00000316623.9:c.*967C>T	ENSP00000325527.5:n.*967C>T
NM_000138.4:c.*967C>T , LRG_778t1:c.*967C>T	NP_000129.3:n.*967C>T
NM_000138.5:c.*967C>T MANE Select	NP_000129.3:n.*967C>T