Canonical Allele Identifier: CA058767

Gene: FBN1

Linked Data

• dbSNP Id: rs368725343
• ExAC: 15:48714169 T / C
• gnomAD v2: 15-48714169-T-C
• gnomAD v3: 15-48421972-T-C
• gnomAD v4: 15-48421972-T-C
• MyVariant Identifiers: chr15:g.48714169T>C (hg19) ; chr15:g.48421972T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421972T>C , CM000677.2:g.48421972T>C	GRCh38
NC_000015.9:g.48714169T>C , CM000677.1:g.48714169T>C	GRCh37
NC_000015.8:g.46501461T>C	NCBI36
NG_008805.2:g.228817A>G , LRG_778:g.228817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*358A>G	ENSP00000453958.2:n.*358A>G
ENST00000674301.2:c.*1063A>G	ENSP00000501333.2:n.*1063A>G
ENST00000682170.1:n.1731A>G
ENST00000682767.1:n.847A>G
ENST00000316623.10:c.7550A>G MANE Select	ENSP00000325527.5:p.Gln2517Arg
ENST00000674301.1:c.2716A>G	ENSP00000501333.1:n.2716A>G
ENST00000316623.9:c.7550A>G	ENSP00000325527.5:p.Gln2517Arg
ENST00000559133.5:c.2919A>G
NM_000138.4:c.7550A>G , LRG_778t1:c.7550A>G	NP_000129.3:p.Gln2517Arg
NM_000138.5:c.7550A>G MANE Select	NP_000129.3:p.Gln2517Arg