Canonical Allele Identifier: CA057060

Gene: FBN1

Linked Data

• ClinVar Variation Id: 928316
• ClinVar RCV Id: RCV001192126 ; RCV002069181
• dbSNP Id: rs547573220
• ExAC: 15:48726798 T / C
• gnomAD v2: 15-48726798-T-C
• gnomAD v3: 15-48434601-T-C
• gnomAD v4: 15-48434601-T-C
• MyVariant Identifiers: chr15:g.48726798T>C (hg19) ; chr15:g.48434601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434601T>C , CM000677.2:g.48434601T>C	GRCh38
NC_000015.9:g.48726798T>C , CM000677.1:g.48726798T>C	GRCh37
NC_000015.8:g.46514090T>C	NCBI36
NG_008805.2:g.216188A>G , LRG_778:g.216188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6609A>G	ENSP00000453958.2:p.Thr2203=
ENST00000674301.2:c.6609A>G	ENSP00000501333.2:p.Thr2203=
ENST00000682170.1:n.218A>G
ENST00000316623.10:c.6609A>G MANE Select	ENSP00000325527.5:p.Thr2203=
ENST00000674301.1:c.1608A>G	ENSP00000501333.1:p.Thr536=
ENST00000316623.9:c.6609A>G	ENSP00000325527.5:p.Thr2203=
ENST00000537463.6:c.*2372A>G	ENSP00000440294.2:n.*2372A>G
ENST00000559133.5:c.1916A>G
NM_000138.4:c.6609A>G , LRG_778t1:c.6609A>G	NP_000129.3:p.Thr2203=
NM_000138.5:c.6609A>G MANE Select	NP_000129.3:p.Thr2203=