Canonical Allele Identifier: CA057685

Gene: FBN1

Linked Data

• dbSNP Id: rs148116316
• ExAC: 15:48720525 G / T
• gnomAD v2: 15-48720525-G-T
• gnomAD v3: 15-48428328-G-T
• gnomAD v4: 15-48428328-G-T
• MyVariant Identifiers: chr15:g.48720525G>T (hg19) ; chr15:g.48428328G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428328G>T , CM000677.2:g.48428328G>T	GRCh38
NC_000015.9:g.48720525G>T , CM000677.1:g.48720525G>T	GRCh37
NC_000015.8:g.46507817G>T	NCBI36
NG_008805.2:g.222461C>A , LRG_778:g.222461C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+18C>A	ENSP00000453958.2:n.6997+18C>A
ENST00000674301.2:c.*448+18C>A	ENSP00000501333.2:n.*448+18C>A
ENST00000682170.1:n.624C>A
ENST00000682767.1:n.232+18C>A
ENST00000316623.10:c.6997+18C>A MANE Select	ENSP00000325527.5:n.6997+18C>A
ENST00000674301.1:c.2101+18C>A	ENSP00000501333.1:n.2101+18C>A
ENST00000316623.9:c.6997+18C>A	ENSP00000325527.5:n.6997+18C>A
ENST00000559133.5:c.2304+18C>A
ENST00000560720.1:n.302C>A
NM_000138.4:c.6997+18C>A , LRG_778t1:c.6997+18C>A	NP_000129.3:n.6997+18C>A
NM_000138.5:c.6997+18C>A MANE Select	NP_000129.3:n.6997+18C>A