Canonical Allele Identifier: CA269521932

Gene: FBN1

Linked Data

• dbSNP Id: rs1008686099
• gnomAD v4: 15-48428601-T-G
• MyVariant Identifiers: chr15:g.48720798T>G (hg19) ; chr15:g.48428601T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428601T>G , CM000677.2:g.48428601T>G	GRCh38
NC_000015.9:g.48720798T>G , CM000677.1:g.48720798T>G	GRCh37
NC_000015.8:g.46508090T>G	NCBI36
NG_008805.2:g.222188A>C , LRG_778:g.222188A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-130A>C	ENSP00000453958.2:n.6872-130A>C
ENST00000674301.2:c.*323-130A>C	ENSP00000501333.2:n.*323-130A>C
ENST00000682170.1:n.481-130A>C
ENST00000316623.10:c.6872-130A>C MANE Select	ENSP00000325527.5:n.6872-130A>C
ENST00000674301.1:c.1976-130A>C	ENSP00000501333.1:n.1976-130A>C
ENST00000316623.9:c.6872-130A>C	ENSP00000325527.5:n.6872-130A>C
ENST00000559133.5:c.2179-130A>C
ENST00000560720.1:n.159-130A>C
NM_000138.4:c.6872-130A>C , LRG_778t1:c.6872-130A>C	NP_000129.3:n.6872-130A>C
NM_000138.5:c.6872-130A>C MANE Select	NP_000129.3:n.6872-130A>C