Canonical Allele Identifier: CA059790

Gene: FBN1

Linked Data

• dbSNP Id: rs768286378
• ExAC: 15:48704729 C / G
• gnomAD v2: 15-48704729-C-G
• gnomAD v4: 15-48412532-C-G
• MyVariant Identifiers: chr15:g.48704729C>G (hg19) ; chr15:g.48412532C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412532C>G , CM000677.2:g.48412532C>G	GRCh38
NC_000015.9:g.48704729C>G , CM000677.1:g.48704729C>G	GRCh37
NC_000015.8:g.46492021C>G	NCBI36
NG_008805.2:g.238257G>C , LRG_778:g.238257G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1034+37G>C	ENSP00000453958.2:n.*1034+37G>C
ENST00000674301.2:c.*1739+37G>C	ENSP00000501333.2:n.*1739+37G>C
ENST00000682158.1:n.1607+37G>C
ENST00000682170.1:n.2407+37G>C
ENST00000682767.1:n.1523+37G>C
ENST00000316623.10:c.8226+37G>C MANE Select	ENSP00000325527.5:n.8226+37G>C
ENST00000674301.1:c.3392+37G>C	ENSP00000501333.1:n.3392+37G>C
ENST00000316623.9:c.8226+37G>C	ENSP00000325527.5:n.8226+37G>C
ENST00000559133.5:c.3595+37G>C
ENST00000561429.1:n.481+37G>C
NM_000138.4:c.8226+37G>C , LRG_778t1:c.8226+37G>C	NP_000129.3:n.8226+37G>C
NM_000138.5:c.8226+37G>C MANE Select	NP_000129.3:n.8226+37G>C