Canonical Allele Identifier: CA392321003

Gene: FBN1

Linked Data

• dbSNP Id: rs1167491040
• gnomAD v2: 15-48704830-T-C
• gnomAD v3: 15-48412633-T-C
• gnomAD v4: 15-48412633-T-C
• MyVariant Identifiers: chr15:g.48704830T>C (hg19) ; chr15:g.48412633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412633T>C , CM000677.2:g.48412633T>C	GRCh38
NC_000015.9:g.48704830T>C , CM000677.1:g.48704830T>C	GRCh37
NC_000015.8:g.46492122T>C	NCBI36
NG_008805.2:g.238156A>G , LRG_778:g.238156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*970A>G	ENSP00000453958.2:n.*970A>G
ENST00000674301.2:c.*1675A>G	ENSP00000501333.2:n.*1675A>G
ENST00000682158.1:n.1543A>G
ENST00000682170.1:n.2343A>G
ENST00000682767.1:n.1459A>G
ENST00000316623.10:c.8162A>G MANE Select	ENSP00000325527.5:p.Asn2721Ser
ENST00000674301.1:c.3328A>G	ENSP00000501333.1:n.3328A>G
ENST00000316623.9:c.8162A>G	ENSP00000325527.5:p.Asn2721Ser
ENST00000559133.5:c.3531A>G
ENST00000561429.1:n.417A>G
NM_000138.4:c.8162A>G , LRG_778t1:c.8162A>G	NP_000129.3:p.Asn2721Ser
NM_000138.5:c.8162A>G MANE Select	NP_000129.3:p.Asn2721Ser