Canonical Allele Identifier: CA490021949

Gene: FBN1

Linked Data

• dbSNP Id: rs193922192
• gnomAD v2: 15-48787339-C-A
• gnomAD v3: 15-48495142-C-A
• gnomAD v4: 15-48495142-C-A
• MyVariant Identifiers: chr15:g.48787339C>A (hg19) ; chr15:g.48495142C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48495142C>A , CM000677.2:g.48495142C>A	GRCh38
NC_000015.9:g.48787339C>A , CM000677.1:g.48787339C>A	GRCh37
NC_000015.8:g.46574631C>A	NCBI36
NG_008805.2:g.155647G>T , LRG_778:g.155647G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2658G>T	ENSP00000453958.2:p.Pro886=
ENST00000674301.2:c.2658G>T	ENSP00000501333.2:p.Pro886=
ENST00000684448.1:n.1332G>T
ENST00000316623.10:c.2658G>T MANE Select	ENSP00000325527.5:p.Pro886=
ENST00000316623.9:c.2658G>T	ENSP00000325527.5:p.Pro886=
ENST00000537463.6:c.637-20492G>T	ENSP00000440294.2:n.637-20492G>T
NM_000138.4:c.2658G>T , LRG_778t1:c.2658G>T	NP_000129.3:p.Pro886=
NM_000138.5:c.2658G>T MANE Select	NP_000129.3:p.Pro886=