Canonical Allele Identifier: CA269518560

Gene: FBN1

Linked Data

• dbSNP Id: rs970449151
• gnomAD v4: 15-48410725-T-C
• MyVariant Identifiers: chr15:g.48702922T>C (hg19) ; chr15:g.48410725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410725T>C , CM000677.2:g.48410725T>C	GRCh38
NC_000015.9:g.48702922T>C , CM000677.1:g.48702922T>C	GRCh37
NC_000015.8:g.46490214T>C	NCBI36
NG_008805.2:g.240064A>G , LRG_778:g.240064A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1689A>G	ENSP00000453958.2:n.*1689A>G
ENST00000682158.1:n.2262A>G
ENST00000682170.1:n.3062A>G
ENST00000682767.1:n.2178A>G
ENST00000316623.10:c.*265A>G MANE Select	ENSP00000325527.5:n.*265A>G
ENST00000316623.9:c.*265A>G	ENSP00000325527.5:n.*265A>G
ENST00000559133.5:c.4250A>G
NM_000138.4:c.*265A>G , LRG_778t1:c.*265A>G	NP_000129.3:n.*265A>G
NM_000138.5:c.*265A>G MANE Select	NP_000129.3:n.*265A>G