Canonical Allele Identifier: CA392323341

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1516484
• ClinVar RCV Id: RCV002040854 ; RCV002407309
• dbSNP Id: rs1555393875
• MyVariant Identifiers: chr15:g.48707904C>G (hg19) ; chr15:g.48415707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415707C>G , CM000677.2:g.48415707C>G	GRCh38
NC_000015.9:g.48707904C>G , CM000677.1:g.48707904C>G	GRCh37
NC_000015.8:g.46495196C>G	NCBI36
NG_008805.2:g.235082G>C , LRG_778:g.235082G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*688G>C	ENSP00000453958.2:n.*688G>C
ENST00000674301.2:c.*1393G>C	ENSP00000501333.2:n.*1393G>C
ENST00000682158.1:n.1261G>C
ENST00000682170.1:n.2061G>C
ENST00000682767.1:n.1177G>C
ENST00000316623.10:c.7880G>C MANE Select	ENSP00000325527.5:p.Gly2627Ala
ENST00000674301.1:c.3046G>C	ENSP00000501333.1:n.3046G>C
ENST00000316623.9:c.7880G>C	ENSP00000325527.5:p.Gly2627Ala
ENST00000559133.5:c.3249G>C
ENST00000561429.1:n.135G>C
NM_000138.4:c.7880G>C , LRG_778t1:c.7880G>C	NP_000129.3:p.Gly2627Ala
NM_000138.5:c.7880G>C MANE Select	NP_000129.3:p.Gly2627Ala