Canonical Allele Identifier: CA392325800

Gene: FBN1

Linked Data

• dbSNP Id: rs1401203158
• gnomAD v2: 15-48713878-T-C
• MyVariant Identifiers: chr15:g.48713878T>C (hg19) ; chr15:g.48421681T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421681T>C , CM000677.2:g.48421681T>C	GRCh38
NC_000015.9:g.48713878T>C , CM000677.1:g.48713878T>C	GRCh37
NC_000015.8:g.46501170T>C	NCBI36
NG_008805.2:g.229108A>G , LRG_778:g.229108A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*384A>G	ENSP00000453958.2:n.*384A>G
ENST00000674301.2:c.*1089A>G	ENSP00000501333.2:n.*1089A>G
ENST00000682170.1:n.1757A>G
ENST00000682767.1:n.873A>G
ENST00000316623.10:c.7576A>G MANE Select	ENSP00000325527.5:p.Asn2526Asp
ENST00000674301.1:c.2742A>G	ENSP00000501333.1:n.2742A>G
ENST00000316623.9:c.7576A>G	ENSP00000325527.5:p.Asn2526Asp
ENST00000559133.5:c.2945A>G
NM_000138.4:c.7576A>G , LRG_778t1:c.7576A>G	NP_000129.3:p.Asn2526Asp
NM_000138.5:c.7576A>G MANE Select	NP_000129.3:p.Asn2526Asp