Canonical Allele Identifier: CA392340125

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457237
• ClinVar RCV Id: RCV000556862
• dbSNP Id: rs1555395762
• MyVariant Identifiers: chr15:g.48737666A>C (hg19) ; chr15:g.48445469A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445469A>C , CM000677.2:g.48445469A>C	GRCh38
NC_000015.9:g.48737666A>C , CM000677.1:g.48737666A>C	GRCh37
NC_000015.8:g.46524958A>C	NCBI36
NG_008805.2:g.205320T>G , LRG_778:g.205320T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5824T>G	ENSP00000453958.2:p.Cys1942Gly
ENST00000674301.2:c.5824T>G	ENSP00000501333.2:p.Cys1942Gly
ENST00000684448.1:n.4498T>G
ENST00000316623.10:c.5824T>G MANE Select	ENSP00000325527.5:p.Cys1942Gly
ENST00000674301.1:c.823T>G	ENSP00000501333.1:p.Cys275Gly
ENST00000316623.9:c.5824T>G	ENSP00000325527.5:p.Cys1942Gly
ENST00000537463.6:c.*1587T>G	ENSP00000440294.2:n.*1587T>G
ENST00000559133.5:c.1131T>G
NM_000138.4:c.5824T>G , LRG_778t1:c.5824T>G	NP_000129.3:p.Cys1942Gly
NM_000138.5:c.5824T>G MANE Select	NP_000129.3:p.Cys1942Gly