Canonical Allele Identifier: CA969556363

Gene: FBN1

Linked Data

• dbSNP Id: rs2043511899
• gnomAD v3: 15-48486942-A-G
• gnomAD v4: 15-48486942-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48486942A>G , CM000677.2:g.48486942A>G	GRCh38
NC_000015.9:g.48779139A>G , CM000677.1:g.48779139A>G	GRCh37
NC_000015.8:g.46566431A>G	NCBI36
NG_008805.2:g.163847T>C , LRG_778:g.163847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+133T>C	ENSP00000453958.2:n.3589+133T>C
ENST00000674301.2:c.3589+133T>C	ENSP00000501333.2:n.3589+133T>C
ENST00000684448.1:n.2263+133T>C
ENST00000316623.10:c.3589+133T>C MANE Select	ENSP00000325527.5:n.3589+133T>C
ENST00000316623.9:c.3589+133T>C	ENSP00000325527.5:n.3589+133T>C
ENST00000537463.6:c.637-12292T>C	ENSP00000440294.2:n.637-12292T>C
NM_000138.4:c.3589+133T>C , LRG_778t1:c.3589+133T>C	NP_000129.3:n.3589+133T>C
NM_000138.5:c.3589+133T>C MANE Select	NP_000129.3:n.3589+133T>C