Canonical Allele Identifier: CA392338201

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1751692
• ClinVar RCV Id: RCV002360240
• MyVariant Identifiers: chr15:g.48733968C>A (hg19) ; chr15:g.48441771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441771C>A , CM000677.2:g.48441771C>A	GRCh38
NC_000015.9:g.48733968C>A , CM000677.1:g.48733968C>A	GRCh37
NC_000015.8:g.46521260C>A	NCBI36
NG_008805.2:g.209018G>T , LRG_778:g.209018G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6113G>T	ENSP00000453958.2:p.Cys2038Phe
ENST00000674301.2:c.6113G>T	ENSP00000501333.2:p.Cys2038Phe
ENST00000316623.10:c.6113G>T MANE Select	ENSP00000325527.5:p.Cys2038Phe
ENST00000674301.1:c.1112G>T	ENSP00000501333.1:p.Cys371Phe
ENST00000316623.9:c.6113G>T	ENSP00000325527.5:p.Cys2038Phe
ENST00000537463.6:c.*1876G>T	ENSP00000440294.2:n.*1876G>T
ENST00000559133.5:c.1420G>T
ENST00000560820.1:n.233G>T
NM_000138.4:c.6113G>T , LRG_778t1:c.6113G>T	NP_000129.3:p.Cys2038Phe
NM_000138.5:c.6113G>T MANE Select	NP_000129.3:p.Cys2038Phe