Canonical Allele Identifier: CA713403323

Gene: FBN1

Linked Data

• dbSNP Id: rs1198214698
• gnomAD v3: 15-48444998-A-C
• gnomAD v4: 15-48444998-A-C
• MyVariant Identifiers: chr15:g.48737195A>C (hg19) ; chr15:g.48444998A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444998A>C , CM000677.2:g.48444998A>C	GRCh38
NC_000015.9:g.48737195A>C , CM000677.1:g.48737195A>C	GRCh37
NC_000015.8:g.46524487A>C	NCBI36
NG_008805.2:g.205791T>G , LRG_778:g.205791T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5918-338T>G	ENSP00000453958.2:n.5918-338T>G
ENST00000674301.2:c.5918-338T>G	ENSP00000501333.2:n.5918-338T>G
ENST00000684448.1:n.4592-338T>G
ENST00000316623.10:c.5918-338T>G MANE Select	ENSP00000325527.5:n.5918-338T>G
ENST00000674301.1:c.917-338T>G	ENSP00000501333.1:n.917-338T>G
ENST00000316623.9:c.5918-338T>G	ENSP00000325527.5:n.5918-338T>G
ENST00000537463.6:c.*1681-338T>G	ENSP00000440294.2:n.*1681-338T>G
ENST00000559133.5:c.1225-338T>G
ENST00000560820.1:n.38-338T>G
NM_000138.4:c.5918-338T>G , LRG_778t1:c.5918-338T>G	NP_000129.3:n.5918-338T>G
NM_000138.5:c.5918-338T>G MANE Select	NP_000129.3:n.5918-338T>G