Canonical Allele Identifier: CA392340072

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3074354
• ClinVar RCV Id: RCV004012896
• gnomAD v4: 15-48445445-T-C
• MyVariant Identifiers: chr15:g.48737642T>C (hg19) ; chr15:g.48445445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445445T>C , CM000677.2:g.48445445T>C	GRCh38
NC_000015.9:g.48737642T>C , CM000677.1:g.48737642T>C	GRCh37
NC_000015.8:g.46524934T>C	NCBI36
NG_008805.2:g.205344A>G , LRG_778:g.205344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5848A>G	ENSP00000453958.2:p.Thr1950Ala
ENST00000674301.2:c.5848A>G	ENSP00000501333.2:p.Thr1950Ala
ENST00000684448.1:n.4522A>G
ENST00000316623.10:c.5848A>G MANE Select	ENSP00000325527.5:p.Thr1950Ala
ENST00000674301.1:c.847A>G	ENSP00000501333.1:p.Thr283Ala
ENST00000316623.9:c.5848A>G	ENSP00000325527.5:p.Thr1950Ala
ENST00000537463.6:c.*1611A>G	ENSP00000440294.2:n.*1611A>G
ENST00000559133.5:c.1155A>G
NM_000138.4:c.5848A>G , LRG_778t1:c.5848A>G	NP_000129.3:p.Thr1950Ala
NM_000138.5:c.5848A>G MANE Select	NP_000129.3:p.Thr1950Ala