Canonical Allele Identifier: CA059602

Gene: FBN1

Linked Data

• dbSNP Id: rs145105768
• ExAC: 15:48704921 C / G
• gnomAD v2: 15-48704921-C-G
• COSMIC: COSM272142
• MyVariant Identifiers: chr15:g.48704921C>G (hg19) ; chr15:g.48412724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412724C>G , CM000677.2:g.48412724C>G	GRCh38
NC_000015.9:g.48704921C>G , CM000677.1:g.48704921C>G	GRCh37
NC_000015.8:g.46492213C>G	NCBI36
NG_008805.2:g.238065G>C , LRG_778:g.238065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*879G>C	ENSP00000453958.2:n.*879G>C
ENST00000674301.2:c.*1584G>C	ENSP00000501333.2:n.*1584G>C
ENST00000682158.1:n.1452G>C
ENST00000682170.1:n.2252G>C
ENST00000682767.1:n.1368G>C
ENST00000316623.10:c.8071G>C MANE Select	ENSP00000325527.5:p.Gly2691Arg
ENST00000674301.1:c.3237G>C	ENSP00000501333.1:n.3237G>C
ENST00000316623.9:c.8071G>C	ENSP00000325527.5:p.Gly2691Arg
ENST00000559133.5:c.3440G>C
ENST00000561429.1:n.326G>C
NM_000138.4:c.8071G>C , LRG_778t1:c.8071G>C	NP_000129.3:p.Gly2691Arg
NM_000138.5:c.8071G>C MANE Select	NP_000129.3:p.Gly2691Arg