Canonical Allele Identifier: CA10587800

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263837
• ClinVar RCV Id: RCV000246065 ; RCV001859450
• dbSNP Id: rs886038943
• MyVariant Identifiers: chr15:g.48729224T>G (hg19) ; chr15:g.48437027T>G (hg38)
• PubMed: PMID:8504310 ; PMID:17657824

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437027T>G , CM000677.2:g.48437027T>G	GRCh38
NC_000015.9:g.48729224T>G , CM000677.1:g.48729224T>G	GRCh37
NC_000015.8:g.46516516T>G	NCBI36
NG_008805.2:g.213762A>C , LRG_778:g.213762A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6430A>C	ENSP00000453958.2:p.Asn2144His
ENST00000674301.2:c.6430A>C	ENSP00000501333.2:p.Asn2144His
ENST00000682170.1:n.39A>C
ENST00000316623.10:c.6430A>C MANE Select	ENSP00000325527.5:p.Asn2144His
ENST00000674301.1:c.1429A>C	ENSP00000501333.1:p.Asn477His
ENST00000316623.9:c.6430A>C	ENSP00000325527.5:p.Asn2144His
ENST00000537463.6:c.*2193A>C	ENSP00000440294.2:n.*2193A>C
ENST00000559133.5:c.1737A>C
NM_000138.4:c.6430A>C , LRG_778t1:c.6430A>C	NP_000129.3:p.Asn2144His
NM_000138.5:c.6430A>C MANE Select	NP_000129.3:p.Asn2144His