Canonical Allele Identifier: CA969557718

Gene: FBN1

Linked Data

• dbSNP Id: rs2043539217
• gnomAD v3: 15-48489707-T-C
• gnomAD v4: 15-48489707-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489707T>C , CM000677.2:g.48489707T>C	GRCh38
NC_000015.9:g.48781904T>C , CM000677.1:g.48781904T>C	GRCh37
NC_000015.8:g.46569196T>C	NCBI36
NG_008805.2:g.161082A>G , LRG_778:g.161082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+144A>G	ENSP00000453958.2:n.3082+144A>G
ENST00000674301.2:c.3082+144A>G	ENSP00000501333.2:n.3082+144A>G
ENST00000684448.1:n.1756+144A>G
ENST00000316623.10:c.3082+144A>G MANE Select	ENSP00000325527.5:n.3082+144A>G
ENST00000316623.9:c.3082+144A>G	ENSP00000325527.5:n.3082+144A>G
ENST00000537463.6:c.637-15057A>G	ENSP00000440294.2:n.637-15057A>G
NM_000138.4:c.3082+144A>G , LRG_778t1:c.3082+144A>G	NP_000129.3:n.3082+144A>G
NM_000138.5:c.3082+144A>G MANE Select	NP_000129.3:n.3082+144A>G