Canonical Allele Identifier: CA046939

Gene: FBN1

Linked Data

• ClinVar Variation Id: 439702
• ClinVar RCV Id: RCV000507578 ; RCV000727005 ; RCV001089320 ; RCV001188645 ; RCV004003555
• dbSNP Id: rs141039922
• ExAC: 15:48791201 T / C
• gnomAD v2: 15-48791201-T-C
• gnomAD v3: 15-48499004-T-C
• gnomAD v4: 15-48499004-T-C
• MyVariant Identifiers: chr15:g.48791201T>C (hg19) ; chr15:g.48499004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48499004T>C , CM000677.2:g.48499004T>C	GRCh38
NC_000015.9:g.48791201T>C , CM000677.1:g.48791201T>C	GRCh37
NC_000015.8:g.46578493T>C	NCBI36
NG_008805.2:g.151785A>G , LRG_778:g.151785A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2148A>G	ENSP00000453958.2:p.Gly716=
ENST00000674301.2:c.2148A>G	ENSP00000501333.2:p.Gly716=
ENST00000684448.1:n.822A>G
ENST00000316623.10:c.2148A>G MANE Select	ENSP00000325527.5:p.Gly716=
ENST00000316623.9:c.2148A>G	ENSP00000325527.5:p.Gly716=
ENST00000537463.6:c.637-24354A>G	ENSP00000440294.2:n.637-24354A>G
NM_000138.4:c.2148A>G , LRG_778t1:c.2148A>G	NP_000129.3:p.Gly716=
NM_000138.5:c.2148A>G MANE Select	NP_000129.3:p.Gly716=