Canonical Allele Identifier: CA392323298

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1761019
• ClinVar RCV Id: RCV002412332
• gnomAD v4: 15-48415701-T-C
• MyVariant Identifiers: chr15:g.48707898T>C (hg19) ; chr15:g.48415701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415701T>C , CM000677.2:g.48415701T>C	GRCh38
NC_000015.9:g.48707898T>C , CM000677.1:g.48707898T>C	GRCh37
NC_000015.8:g.46495190T>C	NCBI36
NG_008805.2:g.235088A>G , LRG_778:g.235088A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*694A>G	ENSP00000453958.2:n.*694A>G
ENST00000674301.2:c.*1399A>G	ENSP00000501333.2:n.*1399A>G
ENST00000682158.1:n.1267A>G
ENST00000682170.1:n.2067A>G
ENST00000682767.1:n.1183A>G
ENST00000316623.10:c.7886A>G MANE Select	ENSP00000325527.5:p.Tyr2629Cys
ENST00000674301.1:c.3052A>G	ENSP00000501333.1:n.3052A>G
ENST00000316623.9:c.7886A>G	ENSP00000325527.5:p.Tyr2629Cys
ENST00000559133.5:c.3255A>G
ENST00000561429.1:n.141A>G
NM_000138.4:c.7886A>G , LRG_778t1:c.7886A>G	NP_000129.3:p.Tyr2629Cys
NM_000138.5:c.7886A>G MANE Select	NP_000129.3:p.Tyr2629Cys