Canonical Allele Identifier: CA046377

Gene: FBN1

Linked Data

• dbSNP Id: rs764865457
• ExAC: 15:48797195 A / G
• gnomAD v2: 15-48797195-A-G
• gnomAD v4: 15-48504998-A-G
• MyVariant Identifiers: chr15:g.48797195A>G (hg19) ; chr15:g.48504998A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504998A>G , CM000677.2:g.48504998A>G	GRCh38
NC_000015.9:g.48797195A>G , CM000677.1:g.48797195A>G	GRCh37
NC_000015.8:g.46584487A>G	NCBI36
NG_008805.2:g.145791T>C , LRG_778:g.145791T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1960+27T>C	ENSP00000453958.2:n.1960+27T>C
ENST00000674301.2:c.1960+27T>C	ENSP00000501333.2:n.1960+27T>C
ENST00000684448.1:n.634+27T>C
ENST00000316623.10:c.1960+27T>C MANE Select	ENSP00000325527.5:n.1960+27T>C
ENST00000316623.9:c.1960+27T>C	ENSP00000325527.5:n.1960+27T>C
ENST00000537463.6:c.637-30348T>C	ENSP00000440294.2:n.637-30348T>C
NM_000138.4:c.1960+27T>C , LRG_778t1:c.1960+27T>C	NP_000129.3:n.1960+27T>C
NM_000138.5:c.1960+27T>C MANE Select	NP_000129.3:n.1960+27T>C