Canonical Allele Identifier: CA2628332319

Gene: FBN1

Linked Data

• gnomAD v4: 15-48432798-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432798C>T , CM000677.2:g.48432798C>T	GRCh38
NC_000015.9:g.48724995C>T , CM000677.1:g.48724995C>T	GRCh37
NC_000015.8:g.46512287C>T	NCBI36
NG_008805.2:g.217991G>A , LRG_778:g.217991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6739+68G>A	ENSP00000453958.2:n.6739+68G>A
ENST00000674301.2:c.*190+68G>A	ENSP00000501333.2:n.*190+68G>A
ENST00000682170.1:n.348+68G>A
ENST00000316623.10:c.6739+68G>A MANE Select	ENSP00000325527.5:n.6739+68G>A
ENST00000674301.1:c.1843+68G>A	ENSP00000501333.1:n.1843+68G>A
ENST00000316623.9:c.6739+68G>A	ENSP00000325527.5:n.6739+68G>A
ENST00000537463.6:c.*2502+68G>A	ENSP00000440294.2:n.*2502+68G>A
ENST00000559133.5:c.2046+68G>A
ENST00000560720.1:n.26+68G>A
NM_000138.4:c.6739+68G>A , LRG_778t1:c.6739+68G>A	NP_000129.3:n.6739+68G>A
NM_000138.5:c.6739+68G>A MANE Select	NP_000129.3:n.6739+68G>A