Canonical Allele Identifier: CA10647075

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316307
• ClinVar RCV Id: RCV000283674 ; RCV000298838 ; RCV000299999 ; RCV000335111 ; RCV000343335 ; RCV000368552 ; RCV000405816 ; RCV000407845
• dbSNP Id: rs144404153
• gnomAD v2: 15-48700827-G-C
• gnomAD v3: 15-48408630-G-C
• gnomAD v4: 15-48408630-G-C
• MyVariant Identifiers: chr15:g.48700827G>C (hg19) ; chr15:g.48408630G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48408630G>C , CM000677.2:g.48408630G>C	GRCh38
NC_000015.9:g.48700827G>C , CM000677.1:g.48700827G>C	GRCh37
NC_000015.8:g.46488119G>C	NCBI36
NG_008805.2:g.242159C>G , LRG_778:g.242159C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682170.1:n.5157C>G
ENST00000682767.1:n.4273C>G
ENST00000316623.10:c.*2360C>G MANE Select	ENSP00000325527.5:n.*2360C>G
ENST00000316623.9:c.*2360C>G	ENSP00000325527.5:n.*2360C>G
NM_000138.4:c.*2360C>G , LRG_778t1:c.*2360C>G	NP_000129.3:n.*2360C>G
NM_000138.5:c.*2360C>G MANE Select	NP_000129.3:n.*2360C>G