Canonical Allele Identifier: CA618009297

Gene: FBN1

Linked Data

• dbSNP Id: rs1261589575
• gnomAD v2: 15-48760370-T-G
• gnomAD v3: 15-48468173-T-G
• gnomAD v4: 15-48468173-T-G
• MyVariant Identifiers: chr15:g.48760370T>G (hg19) ; chr15:g.48468173T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468173T>G , CM000677.2:g.48468173T>G	GRCh38
NC_000015.9:g.48760370T>G , CM000677.1:g.48760370T>G	GRCh37
NC_000015.8:g.46547662T>G	NCBI36
NG_008805.2:g.182616A>C , LRG_778:g.182616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4583-71A>C	ENSP00000453958.2:n.4583-71A>C
ENST00000674301.2:c.4583-71A>C	ENSP00000501333.2:n.4583-71A>C
ENST00000684448.1:n.3257-71A>C
ENST00000316623.10:c.4583-71A>C MANE Select	ENSP00000325527.5:n.4583-71A>C
ENST00000316623.9:c.4583-71A>C	ENSP00000325527.5:n.4583-71A>C
ENST00000537463.6:c.*346-71A>C	ENSP00000440294.2:n.*346-71A>C
NM_000138.4:c.4583-71A>C , LRG_778t1:c.4583-71A>C	NP_000129.3:n.4583-71A>C
NM_000138.5:c.4583-71A>C MANE Select	NP_000129.3:n.4583-71A>C