Canonical Allele Identifier: CA269519897

Gene: FBN1

Linked Data

• dbSNP Id: rs758799637
• gnomAD v3: 15-48421772-C-T
• gnomAD v4: 15-48421772-C-T
• MyVariant Identifiers: chr15:g.48713969C>T (hg19) ; chr15:g.48421772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421772C>T , CM000677.2:g.48421772C>T	GRCh38
NC_000015.9:g.48713969C>T , CM000677.1:g.48713969C>T	GRCh37
NC_000015.8:g.46501261C>T	NCBI36
NG_008805.2:g.229017G>A , LRG_778:g.229017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-86G>A	ENSP00000453958.2:n.*379-86G>A
ENST00000674301.2:c.*1084-86G>A	ENSP00000501333.2:n.*1084-86G>A
ENST00000682170.1:n.1752-86G>A
ENST00000682767.1:n.868-86G>A
ENST00000316623.10:c.7571-86G>A MANE Select	ENSP00000325527.5:n.7571-86G>A
ENST00000674301.1:c.2737-86G>A	ENSP00000501333.1:n.2737-86G>A
ENST00000316623.9:c.7571-86G>A	ENSP00000325527.5:n.7571-86G>A
ENST00000559133.5:c.2940-86G>A
NM_000138.4:c.7571-86G>A , LRG_778t1:c.7571-86G>A	NP_000129.3:n.7571-86G>A
NM_000138.5:c.7571-86G>A MANE Select	NP_000129.3:n.7571-86G>A