Canonical Allele Identifier: CA392327727

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1219885
• ClinVar RCV Id: RCV001590560
• dbSNP Id: rs2042971166
• MyVariant Identifiers: chr15:g.48717601C>G (hg19) ; chr15:g.48425404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425404C>G , CM000677.2:g.48425404C>G	GRCh38
NC_000015.9:g.48717601C>G , CM000677.1:g.48717601C>G	GRCh37
NC_000015.8:g.46504893C>G	NCBI36
NG_008805.2:g.225385G>C , LRG_778:g.225385G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*226G>C	ENSP00000453958.2:n.*226G>C
ENST00000674301.2:c.*931G>C	ENSP00000501333.2:n.*931G>C
ENST00000682170.1:n.1599G>C
ENST00000682767.1:n.715G>C
ENST00000316623.10:c.7418G>C MANE Select	ENSP00000325527.5:p.Gly2473Ala
ENST00000674301.1:c.2584G>C	ENSP00000501333.1:n.2584G>C
ENST00000316623.9:c.7418G>C	ENSP00000325527.5:p.Gly2473Ala
ENST00000559133.5:c.2787G>C
NM_000138.4:c.7418G>C , LRG_778t1:c.7418G>C	NP_000129.3:p.Gly2473Ala
NM_000138.5:c.7418G>C MANE Select	NP_000129.3:p.Gly2473Ala