Canonical Allele Identifier: CA658656479

Gene: FBN1

Linked Data

• ClinVar Variation Id: 449438
• ClinVar RCV Id: RCV000693630 ; RCV003150254 ; RCV001704660
• dbSNP Id: rs1555395256
• MyVariant Identifiers: chr15:g.48729962T>C (hg19) ; chr15:g.48437765T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437765T>C , CM000677.2:g.48437765T>C	GRCh38
NC_000015.9:g.48729962T>C , CM000677.1:g.48729962T>C	GRCh37
NC_000015.8:g.46517254T>C	NCBI36
NG_008805.2:g.213024A>G , LRG_778:g.213024A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6313+3A>G	ENSP00000453958.2:n.6313+3A>G
ENST00000674301.2:c.6313+3A>G	ENSP00000501333.2:n.6313+3A>G
ENST00000316623.10:c.6313+3A>G MANE Select	ENSP00000325527.5:n.6313+3A>G
ENST00000674301.1:c.1312+3A>G	ENSP00000501333.1:n.1312+3A>G
ENST00000316623.9:c.6313+3A>G	ENSP00000325527.5:n.6313+3A>G
ENST00000537463.6:c.*2076+3A>G	ENSP00000440294.2:n.*2076+3A>G
ENST00000559133.5:c.1620+3A>G
ENST00000560820.1:n.436A>G
NM_000138.4:c.6313+3A>G , LRG_778t1:c.6313+3A>G	NP_000129.3:n.6313+3A>G
NM_000138.5:c.6313+3A>G MANE Select	NP_000129.3:n.6313+3A>G