Canonical Allele Identifier: CA969550185

Gene: FBN1

Linked Data

• dbSNP Id: rs2043142241
• gnomAD v3: 15-48444962-T-C
• gnomAD v4: 15-48444962-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444962T>C , CM000677.2:g.48444962T>C	GRCh38
NC_000015.9:g.48737159T>C , CM000677.1:g.48737159T>C	GRCh37
NC_000015.8:g.46524451T>C	NCBI36
NG_008805.2:g.205827A>G , LRG_778:g.205827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5918-302A>G	ENSP00000453958.2:n.5918-302A>G
ENST00000674301.2:c.5918-302A>G	ENSP00000501333.2:n.5918-302A>G
ENST00000684448.1:n.4592-302A>G
ENST00000316623.10:c.5918-302A>G MANE Select	ENSP00000325527.5:n.5918-302A>G
ENST00000674301.1:c.917-302A>G	ENSP00000501333.1:n.917-302A>G
ENST00000316623.9:c.5918-302A>G	ENSP00000325527.5:n.5918-302A>G
ENST00000537463.6:c.*1681-302A>G	ENSP00000440294.2:n.*1681-302A>G
ENST00000559133.5:c.1225-302A>G
ENST00000560820.1:n.38-302A>G
NM_000138.4:c.5918-302A>G , LRG_778t1:c.5918-302A>G	NP_000129.3:n.5918-302A>G
NM_000138.5:c.5918-302A>G MANE Select	NP_000129.3:n.5918-302A>G