Canonical Allele Identifier: CA046680

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1092653
• ClinVar RCV Id: RCV001412527 ; RCV003528297 ; RCV004006927
• dbSNP Id: rs374174497
• ExAC: 15:48796018 C / T
• gnomAD v2: 15-48796018-C-T
• gnomAD v3: 15-48503821-C-T
• gnomAD v4: 15-48503821-C-T
• MyVariant Identifiers: chr15:g.48796018C>T (hg19) ; chr15:g.48503821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503821C>T , CM000677.2:g.48503821C>T	GRCh38
NC_000015.9:g.48796018C>T , CM000677.1:g.48796018C>T	GRCh37
NC_000015.8:g.46583310C>T	NCBI36
NG_008805.2:g.146968G>A , LRG_778:g.146968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2079G>A	ENSP00000453958.2:p.Gly693=
ENST00000674301.2:c.2079G>A	ENSP00000501333.2:p.Gly693=
ENST00000684448.1:n.753G>A
ENST00000316623.10:c.2079G>A MANE Select	ENSP00000325527.5:p.Gly693=
ENST00000316623.9:c.2079G>A	ENSP00000325527.5:p.Gly693=
ENST00000537463.6:c.637-29171G>A	ENSP00000440294.2:n.637-29171G>A
NM_000138.4:c.2079G>A , LRG_778t1:c.2079G>A	NP_000129.3:p.Gly693=
NM_000138.5:c.2079G>A MANE Select	NP_000129.3:p.Gly693=