Canonical Allele Identifier: CA016805

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200096
• ClinVar RCV Id: RCV000181582 ; RCV001060700
• dbSNP Id: rs794728259
• MyVariant Identifiers: chr15:g.48720677T>C (hg19) ; chr15:g.48428480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428480T>C , CM000677.2:g.48428480T>C	GRCh38
NC_000015.9:g.48720677T>C , CM000677.1:g.48720677T>C	GRCh37
NC_000015.8:g.46507969T>C	NCBI36
NG_008805.2:g.222309A>G , LRG_778:g.222309A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-9A>G	ENSP00000453958.2:n.6872-9A>G
ENST00000674301.2:c.*323-9A>G	ENSP00000501333.2:n.*323-9A>G
ENST00000682170.1:n.481-9A>G
ENST00000682767.1:n.98A>G
ENST00000316623.10:c.6872-9A>G MANE Select	ENSP00000325527.5:n.6872-9A>G
ENST00000674301.1:c.1976-9A>G	ENSP00000501333.1:n.1976-9A>G
ENST00000316623.9:c.6872-9A>G	ENSP00000325527.5:n.6872-9A>G
ENST00000559133.5:c.2179-9A>G
ENST00000560720.1:n.159-9A>G
NM_000138.4:c.6872-9A>G , LRG_778t1:c.6872-9A>G	NP_000129.3:n.6872-9A>G
NM_000138.5:c.6872-9A>G MANE Select	NP_000129.3:n.6872-9A>G