Canonical Allele Identifier: CA392319087

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703376C>G (hg19) ; chr15:g.48411179C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411179C>G , CM000677.2:g.48411179C>G	GRCh38
NC_000015.9:g.48703376C>G , CM000677.1:g.48703376C>G	GRCh37
NC_000015.8:g.46490668C>G	NCBI36
NG_008805.2:g.239610G>C , LRG_778:g.239610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1235G>C	ENSP00000453958.2:n.*1235G>C
ENST00000674301.2:c.*1940G>C	ENSP00000501333.2:n.*1940G>C
ENST00000682158.1:n.1808G>C
ENST00000682170.1:n.2608G>C
ENST00000682767.1:n.1724G>C
ENST00000316623.10:c.8427G>C MANE Select	ENSP00000325527.5:p.Lys2809Asn
ENST00000674301.1:c.3593G>C	ENSP00000501333.1:n.3593G>C
ENST00000316623.9:c.8427G>C	ENSP00000325527.5:p.Lys2809Asn
ENST00000559133.5:c.3796G>C
NM_000138.4:c.8427G>C , LRG_778t1:c.8427G>C	NP_000129.3:p.Lys2809Asn
NM_000138.5:c.8427G>C MANE Select	NP_000129.3:p.Lys2809Asn