Canonical Allele Identifier: CA2628336728

Gene: FBN1

Linked Data

• gnomAD v4: 15-48520943-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520943C>A , CM000677.2:g.48520943C>A	GRCh38
NC_000015.9:g.48813140C>A , CM000677.1:g.48813140C>A	GRCh37
NC_000015.8:g.46600432C>A	NCBI36
NG_008805.2:g.129846G>T , LRG_778:g.129846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-126G>T	ENSP00000453958.2:n.989-126G>T
ENST00000674301.2:c.989-126G>T	ENSP00000501333.2:n.989-126G>T
ENST00000316623.10:c.989-126G>T MANE Select	ENSP00000325527.5:n.989-126G>T
ENST00000316623.9:c.989-126G>T	ENSP00000325527.5:n.989-126G>T
ENST00000537463.6:c.636+16768G>T	ENSP00000440294.2:n.636+16768G>T
NM_000138.4:c.989-126G>T , LRG_778t1:c.989-126G>T	NP_000129.3:n.989-126G>T
NM_000138.5:c.989-126G>T MANE Select	NP_000129.3:n.989-126G>T