Canonical Allele Identifier: CA10636123

Gene: FBN1

Linked Data

• ClinVar Variation Id: 316316
• ClinVar RCV Id: RCV000265962 ; RCV000321072 ; RCV000313640 ; RCV000329178 ; RCV000363558 ; RCV000383738 ; RCV000380116 ; RCV003311752
• dbSNP Id: rs558488257
• gnomAD v2: 15-48701163-T-C
• gnomAD v3: 15-48408966-T-C
• gnomAD v4: 15-48408966-T-C
• MyVariant Identifiers: chr15:g.48701163T>C (hg19) ; chr15:g.48408966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48408966T>C , CM000677.2:g.48408966T>C	GRCh38
NC_000015.9:g.48701163T>C , CM000677.1:g.48701163T>C	GRCh37
NC_000015.8:g.46488455T>C	NCBI36
NG_008805.2:g.241823A>G , LRG_778:g.241823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4821A>G
ENST00000682767.1:n.3937A>G
ENST00000316623.10:c.*2024A>G MANE Select	ENSP00000325527.5:n.*2024A>G
ENST00000316623.9:c.*2024A>G	ENSP00000325527.5:n.*2024A>G
NM_000138.4:c.*2024A>G , LRG_778t1:c.*2024A>G	NP_000129.3:n.*2024A>G
NM_000138.5:c.*2024A>G MANE Select	NP_000129.3:n.*2024A>G