Canonical Allele Identifier: CA618009184

Gene: FBN1

Linked Data

• dbSNP Id: rs200822151
• gnomAD v2: 15-48703579-G-C
• gnomAD v4: 15-48411382-G-C
• MyVariant Identifiers: chr15:g.48703579G>C (hg19) ; chr15:g.48411382G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411382G>C , CM000677.2:g.48411382G>C	GRCh38
NC_000015.9:g.48703579G>C , CM000677.1:g.48703579G>C	GRCh37
NC_000015.8:g.46490871G>C	NCBI36
NG_008805.2:g.239407C>G , LRG_778:g.239407C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-3C>G	ENSP00000453958.2:n.*1035-3C>G
ENST00000674301.2:c.*1740-3C>G	ENSP00000501333.2:n.*1740-3C>G
ENST00000682158.1:n.1608-3C>G
ENST00000682170.1:n.2408-3C>G
ENST00000682767.1:n.1524-3C>G
ENST00000316623.10:c.8227-3C>G MANE Select	ENSP00000325527.5:n.8227-3C>G
ENST00000674301.1:c.3393-3C>G	ENSP00000501333.1:n.3393-3C>G
ENST00000316623.9:c.8227-3C>G	ENSP00000325527.5:n.8227-3C>G
ENST00000559133.5:c.3596-3C>G
ENST00000561429.1:n.482-3C>G
NM_000138.4:c.8227-3C>G , LRG_778t1:c.8227-3C>G	NP_000129.3:n.8227-3C>G
NM_000138.5:c.8227-3C>G MANE Select	NP_000129.3:n.8227-3C>G