Canonical Allele Identifier: CA392318473

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411031-C-G
• MyVariant Identifiers: chr15:g.48703228C>G (hg19) ; chr15:g.48411031C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411031C>G , CM000677.2:g.48411031C>G	GRCh38
NC_000015.9:g.48703228C>G , CM000677.1:g.48703228C>G	GRCh37
NC_000015.8:g.46490520C>G	NCBI36
NG_008805.2:g.239758G>C , LRG_778:g.239758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1383G>C	ENSP00000453958.2:n.*1383G>C
ENST00000682158.1:n.1956G>C
ENST00000682170.1:n.2756G>C
ENST00000682767.1:n.1872G>C
ENST00000316623.10:c.8575G>C MANE Select	ENSP00000325527.5:p.Gly2859Arg
ENST00000316623.9:c.8575G>C	ENSP00000325527.5:p.Gly2859Arg
ENST00000559133.5:c.3944G>C
NM_000138.4:c.8575G>C , LRG_778t1:c.8575G>C	NP_000129.3:p.Gly2859Arg
NM_000138.5:c.8575G>C MANE Select	NP_000129.3:p.Gly2859Arg