Canonical Allele Identifier: CA2628331443

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428175-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428175G>T , CM000677.2:g.48428175G>T	GRCh38
NC_000015.9:g.48720372G>T , CM000677.1:g.48720372G>T	GRCh37
NC_000015.8:g.46507664G>T	NCBI36
NG_008805.2:g.222614C>A , LRG_778:g.222614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+171C>A	ENSP00000453958.2:n.6997+171C>A
ENST00000674301.2:c.*448+171C>A	ENSP00000501333.2:n.*448+171C>A
ENST00000682170.1:n.777C>A
ENST00000682767.1:n.232+171C>A
ENST00000316623.10:c.6997+171C>A MANE Select	ENSP00000325527.5:n.6997+171C>A
ENST00000674301.1:c.2101+171C>A	ENSP00000501333.1:n.2101+171C>A
ENST00000316623.9:c.6997+171C>A	ENSP00000325527.5:n.6997+171C>A
ENST00000559133.5:c.2304+171C>A
ENST00000560720.1:n.455C>A
NM_000138.4:c.6997+171C>A , LRG_778t1:c.6997+171C>A	NP_000129.3:n.6997+171C>A
NM_000138.5:c.6997+171C>A MANE Select	NP_000129.3:n.6997+171C>A