Canonical Allele Identifier: CA392332215

Gene: FBN1

Linked Data

• ClinVar Variation Id: 684588
• ClinVar RCV Id: RCV000984055
• dbSNP Id: rs794728194
• MyVariant Identifiers: chr15:g.48787359C>A (hg19) ; chr15:g.48495162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48495162C>A , CM000677.2:g.48495162C>A	GRCh38
NC_000015.9:g.48787359C>A , CM000677.1:g.48787359C>A	GRCh37
NC_000015.8:g.46574651C>A	NCBI36
NG_008805.2:g.155627G>T , LRG_778:g.155627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2638G>T	ENSP00000453958.2:p.Gly880Cys
ENST00000674301.2:c.2638G>T	ENSP00000501333.2:p.Gly880Cys
ENST00000684448.1:n.1312G>T
ENST00000316623.10:c.2638G>T MANE Select	ENSP00000325527.5:p.Gly880Cys
ENST00000316623.9:c.2638G>T	ENSP00000325527.5:p.Gly880Cys
ENST00000537463.6:c.637-20512G>T	ENSP00000440294.2:n.637-20512G>T
NM_000138.4:c.2638G>T , LRG_778t1:c.2638G>T	NP_000129.3:p.Gly880Cys
NM_000138.5:c.2638G>T MANE Select	NP_000129.3:p.Gly880Cys