Canonical Allele Identifier: CA392327659

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1702405
• ClinVar RCV Id: RCV002278723
• dbSNP Id: rs2141226269
• MyVariant Identifiers: chr15:g.48717590G>A (hg19) ; chr15:g.48425393G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425393G>A , CM000677.2:g.48425393G>A	GRCh38
NC_000015.9:g.48717590G>A , CM000677.1:g.48717590G>A	GRCh37
NC_000015.8:g.46504882G>A	NCBI36
NG_008805.2:g.225396C>T , LRG_778:g.225396C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*237C>T	ENSP00000453958.2:n.*237C>T
ENST00000674301.2:c.*942C>T	ENSP00000501333.2:n.*942C>T
ENST00000682170.1:n.1610C>T
ENST00000682767.1:n.726C>T
ENST00000316623.10:c.7429C>T MANE Select	ENSP00000325527.5:p.Gln2477Ter
ENST00000674301.1:c.2595C>T	ENSP00000501333.1:n.2595C>T
ENST00000316623.9:c.7429C>T	ENSP00000325527.5:p.Gln2477Ter
ENST00000559133.5:c.2798C>T
NM_000138.4:c.7429C>T , LRG_778t1:c.7429C>T	NP_000129.3:p.Gln2477Ter
NM_000138.5:c.7429C>T MANE Select	NP_000129.3:p.Gln2477Ter