Canonical Allele Identifier: CA392330937

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720663T>G (hg19) ; chr15:g.48428466T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428466T>G , CM000677.2:g.48428466T>G	GRCh38
NC_000015.9:g.48720663T>G , CM000677.1:g.48720663T>G	GRCh37
NC_000015.8:g.46507955T>G	NCBI36
NG_008805.2:g.222323A>C , LRG_778:g.222323A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6877A>C	ENSP00000453958.2:p.Asn2293His
ENST00000674301.2:c.*328A>C	ENSP00000501333.2:n.*328A>C
ENST00000682170.1:n.486A>C
ENST00000682767.1:n.112A>C
ENST00000316623.10:c.6877A>C MANE Select	ENSP00000325527.5:p.Asn2293His
ENST00000674301.1:c.1981A>C	ENSP00000501333.1:n.1981A>C
ENST00000316623.9:c.6877A>C	ENSP00000325527.5:p.Asn2293His
ENST00000559133.5:c.2184A>C
ENST00000560720.1:n.164A>C
NM_000138.4:c.6877A>C , LRG_778t1:c.6877A>C	NP_000129.3:p.Asn2293His
NM_000138.5:c.6877A>C MANE Select	NP_000129.3:p.Asn2293His