Canonical Allele Identifier: CA055867

Gene: FBN1

Linked Data

• ClinVar Variation Id: 264487
• ClinVar RCV Id: RCV000663834 ; RCV001093333 ; RCV001183769 ; RCV002487161 ; RCV002518732
• dbSNP Id: rs765878996
• ExAC: 15:48736854 A / G
• gnomAD v2: 15-48736854-A-G
• gnomAD v3: 15-48444657-A-G
• gnomAD v4: 15-48444657-A-G
• MyVariant Identifiers: chr15:g.48736854A>G (hg19) ; chr15:g.48444657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444657A>G , CM000677.2:g.48444657A>G	GRCh38
NC_000015.9:g.48736854A>G , CM000677.1:g.48736854A>G	GRCh37
NC_000015.8:g.46524146A>G	NCBI36
NG_008805.2:g.206132T>C , LRG_778:g.206132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5921T>C	ENSP00000453958.2:p.Ile1974Thr
ENST00000674301.2:c.5921T>C	ENSP00000501333.2:p.Ile1974Thr
ENST00000684448.1:n.4595T>C
ENST00000316623.10:c.5921T>C MANE Select	ENSP00000325527.5:p.Ile1974Thr
ENST00000674301.1:c.920T>C	ENSP00000501333.1:p.Ile307Thr
ENST00000316623.9:c.5921T>C	ENSP00000325527.5:p.Ile1974Thr
ENST00000537463.6:c.*1684T>C	ENSP00000440294.2:n.*1684T>C
ENST00000559133.5:c.1228T>C
ENST00000560820.1:n.41T>C
NM_000138.4:c.5921T>C , LRG_778t1:c.5921T>C	NP_000129.3:p.Ile1974Thr
NM_000138.5:c.5921T>C MANE Select	NP_000129.3:p.Ile1974Thr