Canonical Allele Identifier: CA2573150923

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1478182
• ClinVar RCV Id: RCV001998549
• dbSNP Id: rs2141237196

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434716G>C , CM000677.2:g.48434716G>C	GRCh38
NC_000015.9:g.48726913G>C , CM000677.1:g.48726913G>C	GRCh37
NC_000015.8:g.46514205G>C	NCBI36
NG_008805.2:g.216073C>G , LRG_778:g.216073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6497-3C>G	ENSP00000453958.2:n.6497-3C>G
ENST00000674301.2:c.6497-3C>G	ENSP00000501333.2:n.6497-3C>G
ENST00000682170.1:n.106-3C>G
ENST00000316623.10:c.6497-3C>G MANE Select	ENSP00000325527.5:n.6497-3C>G
ENST00000674301.1:c.1496-3C>G	ENSP00000501333.1:n.1496-3C>G
ENST00000316623.9:c.6497-3C>G	ENSP00000325527.5:n.6497-3C>G
ENST00000537463.6:c.*2260-3C>G	ENSP00000440294.2:n.*2260-3C>G
ENST00000559133.5:c.1804-3C>G
NM_000138.4:c.6497-3C>G , LRG_778t1:c.6497-3C>G	NP_000129.3:n.6497-3C>G
NM_000138.5:c.6497-3C>G MANE Select	NP_000129.3:n.6497-3C>G