Canonical Allele Identifier: CA392326058

Gene: FBN1

Linked Data

• dbSNP Id: rs2042947403
• gnomAD v3: 15-48422032-T-A
• gnomAD v4: 15-48422032-T-A
• MyVariant Identifiers: chr15:g.48714229T>A (hg19) ; chr15:g.48422032T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422032T>A , CM000677.2:g.48422032T>A	GRCh38
NC_000015.9:g.48714229T>A , CM000677.1:g.48714229T>A	GRCh37
NC_000015.8:g.46501521T>A	NCBI36
NG_008805.2:g.228757A>T , LRG_778:g.228757A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*298A>T	ENSP00000453958.2:n.*298A>T
ENST00000674301.2:c.*1003A>T	ENSP00000501333.2:n.*1003A>T
ENST00000682170.1:n.1671A>T
ENST00000682767.1:n.787A>T
ENST00000316623.10:c.7490A>T MANE Select	ENSP00000325527.5:p.Gln2497Leu
ENST00000674301.1:c.2656A>T	ENSP00000501333.1:n.2656A>T
ENST00000316623.9:c.7490A>T	ENSP00000325527.5:p.Gln2497Leu
ENST00000559133.5:c.2859A>T
NM_000138.4:c.7490A>T , LRG_778t1:c.7490A>T	NP_000129.3:p.Gln2497Leu
NM_000138.5:c.7490A>T MANE Select	NP_000129.3:p.Gln2497Leu