Canonical Allele Identifier: CA392339966

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2579846
• ClinVar RCV Id: RCV003328821
• MyVariant Identifiers: chr15:g.48737596G>C (hg19) ; chr15:g.48445399G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445399G>C , CM000677.2:g.48445399G>C	GRCh38
NC_000015.9:g.48737596G>C , CM000677.1:g.48737596G>C	GRCh37
NC_000015.8:g.46524888G>C	NCBI36
NG_008805.2:g.205390C>G , LRG_778:g.205390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5894C>G	ENSP00000453958.2:p.Ala1965Gly
ENST00000674301.2:c.5894C>G	ENSP00000501333.2:p.Ala1965Gly
ENST00000684448.1:n.4568C>G
ENST00000316623.10:c.5894C>G MANE Select	ENSP00000325527.5:p.Ala1965Gly
ENST00000674301.1:c.893C>G	ENSP00000501333.1:p.Ala298Gly
ENST00000316623.9:c.5894C>G	ENSP00000325527.5:p.Ala1965Gly
ENST00000537463.6:c.*1657C>G	ENSP00000440294.2:n.*1657C>G
ENST00000559133.5:c.1201C>G
ENST00000560820.1:n.14C>G
NM_000138.4:c.5894C>G , LRG_778t1:c.5894C>G	NP_000129.3:p.Ala1965Gly
NM_000138.5:c.5894C>G MANE Select	NP_000129.3:p.Ala1965Gly