Canonical Allele Identifier: CA392328139

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1325491
• ClinVar RCV Id: RCV002246103
• dbSNP Id: rs2141295251
• MyVariant Identifiers: chr15:g.48780643A>C (hg19) ; chr15:g.48488446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488446A>C , CM000677.2:g.48488446A>C	GRCh38
NC_000015.9:g.48780643A>C , CM000677.1:g.48780643A>C	GRCh37
NC_000015.8:g.46567935A>C	NCBI36
NG_008805.2:g.162343T>G , LRG_778:g.162343T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3130T>G	ENSP00000453958.2:p.Cys1044Gly
ENST00000674301.2:c.3130T>G	ENSP00000501333.2:p.Cys1044Gly
ENST00000684448.1:n.1804T>G
ENST00000316623.10:c.3130T>G MANE Select	ENSP00000325527.5:p.Cys1044Gly
ENST00000316623.9:c.3130T>G	ENSP00000325527.5:p.Cys1044Gly
ENST00000537463.6:c.637-13796T>G	ENSP00000440294.2:n.637-13796T>G
NM_000138.4:c.3130T>G , LRG_778t1:c.3130T>G	NP_000129.3:p.Cys1044Gly
NM_000138.5:c.3130T>G MANE Select	NP_000129.3:p.Cys1044Gly