Canonical Allele Identifier: CA618009156

Gene: FBN1

Linked Data

• dbSNP Id: rs1217567912
• gnomAD v2: 15-48703145-A-G
• gnomAD v4: 15-48410948-A-G
• MyVariant Identifiers: chr15:g.48703145A>G (hg19) ; chr15:g.48410948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410948A>G , CM000677.2:g.48410948A>G	GRCh38
NC_000015.9:g.48703145A>G , CM000677.1:g.48703145A>G	GRCh37
NC_000015.8:g.46490437A>G	NCBI36
NG_008805.2:g.239841T>C , LRG_778:g.239841T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1466T>C	ENSP00000453958.2:n.*1466T>C
ENST00000682158.1:n.2039T>C
ENST00000682170.1:n.2839T>C
ENST00000682767.1:n.1955T>C
ENST00000316623.10:c.*42T>C MANE Select	ENSP00000325527.5:n.*42T>C
ENST00000316623.9:c.*42T>C	ENSP00000325527.5:n.*42T>C
ENST00000559133.5:c.4027T>C
NM_000138.4:c.*42T>C , LRG_778t1:c.*42T>C	NP_000129.3:n.*42T>C
NM_000138.5:c.*42T>C MANE Select	NP_000129.3:n.*42T>C