Canonical Allele Identifier: CA2628347626

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445336-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445336G>T , CM000677.2:g.48445336G>T	GRCh38
NC_000015.9:g.48737533G>T , CM000677.1:g.48737533G>T	GRCh37
NC_000015.8:g.46524825G>T	NCBI36
NG_008805.2:g.205453C>A , LRG_778:g.205453C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+40C>A	ENSP00000453958.2:n.5917+40C>A
ENST00000674301.2:c.5917+40C>A	ENSP00000501333.2:n.5917+40C>A
ENST00000684448.1:n.4591+40C>A
ENST00000316623.10:c.5917+40C>A MANE Select	ENSP00000325527.5:n.5917+40C>A
ENST00000674301.1:c.916+40C>A	ENSP00000501333.1:n.916+40C>A
ENST00000316623.9:c.5917+40C>A	ENSP00000325527.5:n.5917+40C>A
ENST00000537463.6:c.*1680+40C>A	ENSP00000440294.2:n.*1680+40C>A
ENST00000559133.5:c.1224+40C>A
ENST00000560820.1:n.37+40C>A
NM_000138.4:c.5917+40C>A , LRG_778t1:c.5917+40C>A	NP_000129.3:n.5917+40C>A
NM_000138.5:c.5917+40C>A MANE Select	NP_000129.3:n.5917+40C>A