Canonical Allele Identifier: CA10583239

Gene: FBN1

Linked Data

• ClinVar Variation Id: 237102
• ClinVar RCV Id: RCV000229033 ; RCV001559866
• dbSNP Id: rs878853688
• MyVariant Identifiers: chr15:g.48729960C>T (hg19) ; chr15:g.48437763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437763C>T , CM000677.2:g.48437763C>T	GRCh38
NC_000015.9:g.48729960C>T , CM000677.1:g.48729960C>T	GRCh37
NC_000015.8:g.46517252C>T	NCBI36
NG_008805.2:g.213026G>A , LRG_778:g.213026G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6313+5G>A	ENSP00000453958.2:n.6313+5G>A
ENST00000674301.2:c.6313+5G>A	ENSP00000501333.2:n.6313+5G>A
ENST00000316623.10:c.6313+5G>A MANE Select	ENSP00000325527.5:n.6313+5G>A
ENST00000674301.1:c.1312+5G>A	ENSP00000501333.1:n.1312+5G>A
ENST00000316623.9:c.6313+5G>A	ENSP00000325527.5:n.6313+5G>A
ENST00000537463.6:c.*2076+5G>A	ENSP00000440294.2:n.*2076+5G>A
ENST00000559133.5:c.1620+5G>A
ENST00000560820.1:n.438G>A
NM_000138.4:c.6313+5G>A , LRG_778t1:c.6313+5G>A	NP_000129.3:n.6313+5G>A
NM_000138.5:c.6313+5G>A MANE Select	NP_000129.3:n.6313+5G>A