Canonical Allele Identifier: CA392329938

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519785
• ClinVar RCV Id: RCV002313271
• dbSNP Id: rs1555398829
• gnomAD v4: 15-48490035-C-G
• MyVariant Identifiers: chr15:g.48782232C>G (hg19) ; chr15:g.48490035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490035C>G , CM000677.2:g.48490035C>G	GRCh38
NC_000015.9:g.48782232C>G , CM000677.1:g.48782232C>G	GRCh37
NC_000015.8:g.46569524C>G	NCBI36
NG_008805.2:g.160754G>C , LRG_778:g.160754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2898G>C	ENSP00000453958.2:p.Glu966Asp
ENST00000674301.2:c.2898G>C	ENSP00000501333.2:p.Glu966Asp
ENST00000684448.1:n.1572G>C
ENST00000316623.10:c.2898G>C MANE Select	ENSP00000325527.5:p.Glu966Asp
ENST00000316623.9:c.2898G>C	ENSP00000325527.5:p.Glu966Asp
ENST00000537463.6:c.637-15385G>C	ENSP00000440294.2:n.637-15385G>C
NM_000138.4:c.2898G>C , LRG_778t1:c.2898G>C	NP_000129.3:p.Glu966Asp
NM_000138.5:c.2898G>C MANE Select	NP_000129.3:p.Glu966Asp