Canonical Allele Identifier: CA392330912

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549374
• ClinVar RCV Id: RCV000663909 ; RCV001224797
• dbSNP Id: rs1555394644
• MyVariant Identifiers: chr15:g.48720657A>C (hg19) ; chr15:g.48428460A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428460A>C , CM000677.2:g.48428460A>C	GRCh38
NC_000015.9:g.48720657A>C , CM000677.1:g.48720657A>C	GRCh37
NC_000015.8:g.46507949A>C	NCBI36
NG_008805.2:g.222329T>G , LRG_778:g.222329T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6883T>G	ENSP00000453958.2:p.Cys2295Gly
ENST00000674301.2:c.*334T>G	ENSP00000501333.2:n.*334T>G
ENST00000682170.1:n.492T>G
ENST00000682767.1:n.118T>G
ENST00000316623.10:c.6883T>G MANE Select	ENSP00000325527.5:p.Cys2295Gly
ENST00000674301.1:c.1987T>G	ENSP00000501333.1:n.1987T>G
ENST00000316623.9:c.6883T>G	ENSP00000325527.5:p.Cys2295Gly
ENST00000559133.5:c.2190T>G
ENST00000560720.1:n.170T>G
NM_000138.4:c.6883T>G , LRG_778t1:c.6883T>G	NP_000129.3:p.Cys2295Gly
NM_000138.5:c.6883T>G MANE Select	NP_000129.3:p.Cys2295Gly