Canonical Allele Identifier: CA269519654

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2498344
• ClinVar RCV Id: RCV003329135
• dbSNP Id: rs112991916
• MyVariant Identifiers: chr15:g.48713753A>G (hg19) ; chr15:g.48421556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421556A>G , CM000677.2:g.48421556A>G	GRCh38
NC_000015.9:g.48713753A>G , CM000677.1:g.48713753A>G	GRCh37
NC_000015.8:g.46501045A>G	NCBI36
NG_008805.2:g.229233T>C , LRG_778:g.229233T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+2T>C	ENSP00000453958.2:n.*507+2T>C
ENST00000674301.2:c.*1212+2T>C	ENSP00000501333.2:n.*1212+2T>C
ENST00000682170.1:n.1880+2T>C
ENST00000682767.1:n.996+2T>C
ENST00000316623.10:c.7699+2T>C MANE Select	ENSP00000325527.5:n.7699+2T>C
ENST00000674301.1:c.2865+2T>C	ENSP00000501333.1:n.2865+2T>C
ENST00000316623.9:c.7699+2T>C	ENSP00000325527.5:n.7699+2T>C
ENST00000559133.5:c.3068+2T>C
NM_000138.4:c.7699+2T>C , LRG_778t1:c.7699+2T>C	NP_000129.3:n.7699+2T>C
NM_000138.5:c.7699+2T>C MANE Select	NP_000129.3:n.7699+2T>C