Canonical Allele Identifier: CA2628329344

Gene: FBN1

Linked Data

• gnomAD v4: 15-48421549-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421549T>G , CM000677.2:g.48421549T>G	GRCh38
NC_000015.9:g.48713746T>G , CM000677.1:g.48713746T>G	GRCh37
NC_000015.8:g.46501038T>G	NCBI36
NG_008805.2:g.229240A>C , LRG_778:g.229240A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+9A>C	ENSP00000453958.2:n.*507+9A>C
ENST00000674301.2:c.*1212+9A>C	ENSP00000501333.2:n.*1212+9A>C
ENST00000682170.1:n.1880+9A>C
ENST00000682767.1:n.996+9A>C
ENST00000316623.10:c.7699+9A>C MANE Select	ENSP00000325527.5:n.7699+9A>C
ENST00000674301.1:c.2865+9A>C	ENSP00000501333.1:n.2865+9A>C
ENST00000316623.9:c.7699+9A>C	ENSP00000325527.5:n.7699+9A>C
ENST00000559133.5:c.3068+9A>C
NM_000138.4:c.7699+9A>C , LRG_778t1:c.7699+9A>C	NP_000129.3:n.7699+9A>C
NM_000138.5:c.7699+9A>C MANE Select	NP_000129.3:n.7699+9A>C