Canonical Allele Identifier: CA713392138

Gene: FBN1

Linked Data

• dbSNP Id: rs1191250830
• gnomAD v3: 15-48428492-A-G
• gnomAD v4: 15-48428492-A-G
• MyVariant Identifiers: chr15:g.48720689A>G (hg19) ; chr15:g.48428492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428492A>G , CM000677.2:g.48428492A>G	GRCh38
NC_000015.9:g.48720689A>G , CM000677.1:g.48720689A>G	GRCh37
NC_000015.8:g.46507981A>G	NCBI36
NG_008805.2:g.222297T>C , LRG_778:g.222297T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-21T>C	ENSP00000453958.2:n.6872-21T>C
ENST00000674301.2:c.*323-21T>C	ENSP00000501333.2:n.*323-21T>C
ENST00000682170.1:n.481-21T>C
ENST00000682767.1:n.86T>C
ENST00000316623.10:c.6872-21T>C MANE Select	ENSP00000325527.5:n.6872-21T>C
ENST00000674301.1:c.1976-21T>C	ENSP00000501333.1:n.1976-21T>C
ENST00000316623.9:c.6872-21T>C	ENSP00000325527.5:n.6872-21T>C
ENST00000559133.5:c.2179-21T>C
ENST00000560720.1:n.159-21T>C
NM_000138.4:c.6872-21T>C , LRG_778t1:c.6872-21T>C	NP_000129.3:n.6872-21T>C
NM_000138.5:c.6872-21T>C MANE Select	NP_000129.3:n.6872-21T>C