Canonical Allele Identifier: CA392334628

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1708418
• ClinVar RCV Id: RCV002287791
• gnomAD v4: 15-48434603-T-C
• MyVariant Identifiers: chr15:g.48726800T>C (hg19) ; chr15:g.48434603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434603T>C , CM000677.2:g.48434603T>C	GRCh38
NC_000015.9:g.48726800T>C , CM000677.1:g.48726800T>C	GRCh37
NC_000015.8:g.46514092T>C	NCBI36
NG_008805.2:g.216186A>G , LRG_778:g.216186A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6607A>G	ENSP00000453958.2:p.Thr2203Ala
ENST00000674301.2:c.6607A>G	ENSP00000501333.2:p.Thr2203Ala
ENST00000682170.1:n.216A>G
ENST00000316623.10:c.6607A>G MANE Select	ENSP00000325527.5:p.Thr2203Ala
ENST00000674301.1:c.1606A>G	ENSP00000501333.1:p.Thr536Ala
ENST00000316623.9:c.6607A>G	ENSP00000325527.5:p.Thr2203Ala
ENST00000537463.6:c.*2370A>G	ENSP00000440294.2:n.*2370A>G
ENST00000559133.5:c.1914A>G
NM_000138.4:c.6607A>G , LRG_778t1:c.6607A>G	NP_000129.3:p.Thr2203Ala
NM_000138.5:c.6607A>G MANE Select	NP_000129.3:p.Thr2203Ala