Canonical Allele Identifier: CA16619942

Gene: FBN1

Linked Data

• ClinVar Variation Id: 418201
• ClinVar RCV Id: RCV000632008 ; RCV000663907 ; RCV001509486 ; RCV002374878
• dbSNP Id: rs1064793119
• MyVariant Identifiers: chr15:g.48720682T>C (hg19) ; chr15:g.48428485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428485T>C , CM000677.2:g.48428485T>C	GRCh38
NC_000015.9:g.48720682T>C , CM000677.1:g.48720682T>C	GRCh37
NC_000015.8:g.46507974T>C	NCBI36
NG_008805.2:g.222304A>G , LRG_778:g.222304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-14A>G	ENSP00000453958.2:n.6872-14A>G
ENST00000674301.2:c.*323-14A>G	ENSP00000501333.2:n.*323-14A>G
ENST00000682170.1:n.481-14A>G
ENST00000682767.1:n.93A>G
ENST00000316623.10:c.6872-14A>G MANE Select	ENSP00000325527.5:n.6872-14A>G
ENST00000674301.1:c.1976-14A>G	ENSP00000501333.1:n.1976-14A>G
ENST00000316623.9:c.6872-14A>G	ENSP00000325527.5:n.6872-14A>G
ENST00000559133.5:c.2179-14A>G
ENST00000560720.1:n.159-14A>G
NM_000138.4:c.6872-14A>G , LRG_778t1:c.6872-14A>G	NP_000129.3:n.6872-14A>G
NM_000138.5:c.6872-14A>G MANE Select	NP_000129.3:n.6872-14A>G