Canonical Allele Identifier: CA392318525

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2952534
• ClinVar RCV Id: RCV003815685
• gnomAD v4: 15-48411049-A-G
• MyVariant Identifiers: chr15:g.48703246A>G (hg19) ; chr15:g.48411049A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411049A>G , CM000677.2:g.48411049A>G	GRCh38
NC_000015.9:g.48703246A>G , CM000677.1:g.48703246A>G	GRCh37
NC_000015.8:g.46490538A>G	NCBI36
NG_008805.2:g.239740T>C , LRG_778:g.239740T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1365T>C	ENSP00000453958.2:n.*1365T>C
ENST00000682158.1:n.1938T>C
ENST00000682170.1:n.2738T>C
ENST00000682767.1:n.1854T>C
ENST00000316623.10:c.8557T>C MANE Select	ENSP00000325527.5:p.Tyr2853His
ENST00000316623.9:c.8557T>C	ENSP00000325527.5:p.Tyr2853His
ENST00000559133.5:c.3926T>C
NM_000138.4:c.8557T>C , LRG_778t1:c.8557T>C	NP_000129.3:p.Tyr2853His
NM_000138.5:c.8557T>C MANE Select	NP_000129.3:p.Tyr2853His