Canonical Allele Identifier: CA059419

Gene: FBN1

Linked Data

• dbSNP Id: rs751894266
• ExAC: 15:48707799 C / A
• gnomAD v2: 15-48707799-C-A
• gnomAD v4: 15-48415602-C-A
• MyVariant Identifiers: chr15:g.48707799C>A (hg19) ; chr15:g.48415602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415602C>A , CM000677.2:g.48415602C>A	GRCh38
NC_000015.9:g.48707799C>A , CM000677.1:g.48707799C>A	GRCh37
NC_000015.8:g.46495091C>A	NCBI36
NG_008805.2:g.235187G>T , LRG_778:g.235187G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*793G>T	ENSP00000453958.2:n.*793G>T
ENST00000674301.2:c.*1498G>T	ENSP00000501333.2:n.*1498G>T
ENST00000682158.1:n.1366G>T
ENST00000682170.1:n.2166G>T
ENST00000682767.1:n.1282G>T
ENST00000316623.10:c.7985G>T MANE Select	ENSP00000325527.5:p.Gly2662Val
ENST00000674301.1:c.3151G>T	ENSP00000501333.1:n.3151G>T
ENST00000316623.9:c.7985G>T	ENSP00000325527.5:p.Gly2662Val
ENST00000559133.5:c.3354G>T
ENST00000561429.1:n.240G>T
NM_000138.4:c.7985G>T , LRG_778t1:c.7985G>T	NP_000129.3:p.Gly2662Val
NM_000138.5:c.7985G>T MANE Select	NP_000129.3:p.Gly2662Val