Canonical Allele Identifier: CA392336847

Gene: FBN1

Linked Data

• ClinVar Variation Id: 488820
• ClinVar RCV Id: RCV000578575 ; RCV000663863 ; RCV000696097
• dbSNP Id: rs1555395229
• gnomAD v4: 15-48437376-G-A
• MyVariant Identifiers: chr15:g.48729573G>A (hg19) ; chr15:g.48437376G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437376G>A , CM000677.2:g.48437376G>A	GRCh38
NC_000015.9:g.48729573G>A , CM000677.1:g.48729573G>A	GRCh37
NC_000015.8:g.46516865G>A	NCBI36
NG_008805.2:g.213413C>T , LRG_778:g.213413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6325C>T	ENSP00000453958.2:p.Gln2109Ter
ENST00000674301.2:c.6325C>T	ENSP00000501333.2:p.Gln2109Ter
ENST00000316623.10:c.6325C>T MANE Select	ENSP00000325527.5:p.Gln2109Ter
ENST00000674301.1:c.1324C>T	ENSP00000501333.1:p.Gln442Ter
ENST00000316623.9:c.6325C>T	ENSP00000325527.5:p.Gln2109Ter
ENST00000537463.6:c.*2088C>T	ENSP00000440294.2:n.*2088C>T
ENST00000559133.5:c.1632C>T
NM_000138.4:c.6325C>T , LRG_778t1:c.6325C>T	NP_000129.3:p.Gln2109Ter
NM_000138.5:c.6325C>T MANE Select	NP_000129.3:p.Gln2109Ter