Canonical Allele Identifier: CA2628333100

Gene: FBN1

Linked Data

• gnomAD v4: 15-48436950-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48436950T>A , CM000677.2:g.48436950T>A	GRCh38
NC_000015.9:g.48729147T>A , CM000677.1:g.48729147T>A	GRCh37
NC_000015.8:g.46516439T>A	NCBI36
NG_008805.2:g.213839A>T , LRG_778:g.213839A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6496+11A>T	ENSP00000453958.2:n.6496+11A>T
ENST00000674301.2:c.6496+11A>T	ENSP00000501333.2:n.6496+11A>T
ENST00000682170.1:n.105+11A>T
ENST00000316623.10:c.6496+11A>T MANE Select	ENSP00000325527.5:n.6496+11A>T
ENST00000674301.1:c.1495+11A>T	ENSP00000501333.1:n.1495+11A>T
ENST00000316623.9:c.6496+11A>T	ENSP00000325527.5:n.6496+11A>T
ENST00000537463.6:c.*2259+11A>T	ENSP00000440294.2:n.*2259+11A>T
ENST00000559133.5:c.1803+11A>T
NM_000138.4:c.6496+11A>T , LRG_778t1:c.6496+11A>T	NP_000129.3:n.6496+11A>T
NM_000138.5:c.6496+11A>T MANE Select	NP_000129.3:n.6496+11A>T