Canonical Allele Identifier: CA969562937

Gene: FBN1

Linked Data

• dbSNP Id: rs2043694676
• gnomAD v3: 15-48504843-C-A
• gnomAD v4: 15-48504843-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504843C>A , CM000677.2:g.48504843C>A	GRCh38
NC_000015.9:g.48797040C>A , CM000677.1:g.48797040C>A	GRCh37
NC_000015.8:g.46584332C>A	NCBI36
NG_008805.2:g.145946G>T , LRG_778:g.145946G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1960+182G>T	ENSP00000453958.2:n.1960+182G>T
ENST00000674301.2:c.1960+182G>T	ENSP00000501333.2:n.1960+182G>T
ENST00000684448.1:n.634+182G>T
ENST00000316623.10:c.1960+182G>T MANE Select	ENSP00000325527.5:n.1960+182G>T
ENST00000316623.9:c.1960+182G>T	ENSP00000325527.5:n.1960+182G>T
ENST00000537463.6:c.637-30193G>T	ENSP00000440294.2:n.637-30193G>T
NM_000138.4:c.1960+182G>T , LRG_778t1:c.1960+182G>T	NP_000129.3:n.1960+182G>T
NM_000138.5:c.1960+182G>T MANE Select	NP_000129.3:n.1960+182G>T