Canonical Allele Identifier: CA392341442

Gene: FBN1

Linked Data

• ClinVar Variation Id: 659198
• ClinVar RCV Id: RCV000816163
• dbSNP Id: rs1597533706
• MyVariant Identifiers: chr15:g.48739012A>C (hg19) ; chr15:g.48446815A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446815A>C , CM000677.2:g.48446815A>C	GRCh38
NC_000015.9:g.48739012A>C , CM000677.1:g.48739012A>C	GRCh37
NC_000015.8:g.46526304A>C	NCBI36
NG_008805.2:g.203974T>G , LRG_778:g.203974T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5679T>G	ENSP00000453958.2:p.Asn1893Lys
ENST00000674301.2:c.5679T>G	ENSP00000501333.2:p.Asn1893Lys
ENST00000684448.1:n.4353T>G
ENST00000316623.10:c.5679T>G MANE Select	ENSP00000325527.5:p.Asn1893Lys
ENST00000674301.1:c.678T>G	ENSP00000501333.1:p.Asn226Lys
ENST00000316623.9:c.5679T>G	ENSP00000325527.5:p.Asn1893Lys
ENST00000537463.6:c.*1442T>G	ENSP00000440294.2:n.*1442T>G
ENST00000559133.5:c.986T>G
NM_000138.4:c.5679T>G , LRG_778t1:c.5679T>G	NP_000129.3:p.Asn1893Lys
NM_000138.5:c.5679T>G MANE Select	NP_000129.3:p.Asn1893Lys