Canonical Allele Identifier: CA16607084

Gene: FBN1

Linked Data

• ClinVar Variation Id: 385605
• ClinVar RCV Id: RCV000425848 ; RCV003766302
• dbSNP Id: rs1057522272
• MyVariant Identifiers: chr15:g.48722946A>C (hg19) ; chr15:g.48430749A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430749A>C , CM000677.2:g.48430749A>C	GRCh38
NC_000015.9:g.48722946A>C , CM000677.1:g.48722946A>C	GRCh37
NC_000015.8:g.46510238A>C	NCBI36
NG_008805.2:g.220040T>G , LRG_778:g.220040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6793T>G	ENSP00000453958.2:p.Cys2265Gly
ENST00000674301.2:c.*244T>G	ENSP00000501333.2:n.*244T>G
ENST00000682170.1:n.402T>G
ENST00000316623.10:c.6793T>G MANE Select	ENSP00000325527.5:p.Cys2265Gly
ENST00000674301.1:c.1897T>G	ENSP00000501333.1:n.1897T>G
ENST00000316623.9:c.6793T>G	ENSP00000325527.5:p.Cys2265Gly
ENST00000559133.5:c.2100T>G
ENST00000560720.1:n.80T>G
NM_000138.4:c.6793T>G , LRG_778t1:c.6793T>G	NP_000129.3:p.Cys2265Gly
NM_000138.5:c.6793T>G MANE Select	NP_000129.3:p.Cys2265Gly