Canonical Allele Identifier: CA392318865

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411127-A-G
• MyVariant Identifiers: chr15:g.48703324A>G (hg19) ; chr15:g.48411127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411127A>G , CM000677.2:g.48411127A>G	GRCh38
NC_000015.9:g.48703324A>G , CM000677.1:g.48703324A>G	GRCh37
NC_000015.8:g.46490616A>G	NCBI36
NG_008805.2:g.239662T>C , LRG_778:g.239662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1287T>C	ENSP00000453958.2:n.*1287T>C
ENST00000674301.2:c.*1992T>C	ENSP00000501333.2:n.*1992T>C
ENST00000682158.1:n.1860T>C
ENST00000682170.1:n.2660T>C
ENST00000682767.1:n.1776T>C
ENST00000316623.10:c.8479T>C MANE Select	ENSP00000325527.5:p.Tyr2827His
ENST00000674301.1:c.3645T>C	ENSP00000501333.1:n.3645T>C
ENST00000316623.9:c.8479T>C	ENSP00000325527.5:p.Tyr2827His
ENST00000559133.5:c.3848T>C
NM_000138.4:c.8479T>C , LRG_778t1:c.8479T>C	NP_000129.3:p.Tyr2827His
NM_000138.5:c.8479T>C MANE Select	NP_000129.3:p.Tyr2827His