Canonical Allele Identifier: CA269548272

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495617
• ClinVar RCV Id: RCV000588782 ; RCV000813638 ; RCV003318603
• dbSNP Id: rs112930491
• MyVariant Identifiers: chr15:g.48756147A>C (hg19) ; chr15:g.48463950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463950A>C , CM000677.2:g.48463950A>C	GRCh38
NC_000015.9:g.48756147A>C , CM000677.1:g.48756147A>C	GRCh37
NC_000015.8:g.46543439A>C	NCBI36
NG_008805.2:g.186839T>G , LRG_778:g.186839T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5014T>G	ENSP00000453958.2:p.Cys1672Gly
ENST00000674301.2:c.5014T>G	ENSP00000501333.2:p.Cys1672Gly
ENST00000684448.1:n.3688T>G
ENST00000316623.10:c.5014T>G MANE Select	ENSP00000325527.5:p.Cys1672Gly
ENST00000674301.1:c.13T>G	ENSP00000501333.1:p.Cys5Gly
ENST00000316623.9:c.5014T>G	ENSP00000325527.5:p.Cys1672Gly
ENST00000537463.6:c.*777T>G	ENSP00000440294.2:n.*777T>G
ENST00000559133.5:c.321T>G
NM_000138.4:c.5014T>G , LRG_778t1:c.5014T>G	NP_000129.3:p.Cys1672Gly
NM_000138.5:c.5014T>G MANE Select	NP_000129.3:p.Cys1672Gly