Canonical Allele Identifier: CA618009160

Gene: FBN1

Linked Data

• dbSNP Id: rs1246665002
• gnomAD v2: 15-48703167-T-C
• gnomAD v4: 15-48410970-T-C
• MyVariant Identifiers: chr15:g.48703167T>C (hg19) ; chr15:g.48410970T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410970T>C , CM000677.2:g.48410970T>C	GRCh38
NC_000015.9:g.48703167T>C , CM000677.1:g.48703167T>C	GRCh37
NC_000015.8:g.46490459T>C	NCBI36
NG_008805.2:g.239819A>G , LRG_778:g.239819A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1444A>G	ENSP00000453958.2:n.*1444A>G
ENST00000682158.1:n.2017A>G
ENST00000682170.1:n.2817A>G
ENST00000682767.1:n.1933A>G
ENST00000316623.10:c.*20A>G MANE Select	ENSP00000325527.5:n.*20A>G
ENST00000316623.9:c.*20A>G	ENSP00000325527.5:n.*20A>G
ENST00000559133.5:c.4005A>G
NM_000138.4:c.*20A>G , LRG_778t1:c.*20A>G	NP_000129.3:n.*20A>G
NM_000138.5:c.*20A>G MANE Select	NP_000129.3:n.*20A>G