Canonical Allele Identifier: CA16614794

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406283
• ClinVar RCV Id: RCV000458027 ; RCV000663896 ; RCV001093331 ; RCV001192807
• dbSNP Id: rs1060501032
• MyVariant Identifiers: chr15:g.48722999T>C (hg19) ; chr15:g.48430802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430802T>C , CM000677.2:g.48430802T>C	GRCh38
NC_000015.9:g.48722999T>C , CM000677.1:g.48722999T>C	GRCh37
NC_000015.8:g.46510291T>C	NCBI36
NG_008805.2:g.219987A>G , LRG_778:g.219987A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6740A>G	ENSP00000453958.2:p.Asp2247Gly
ENST00000674301.2:c.*191A>G	ENSP00000501333.2:n.*191A>G
ENST00000682170.1:n.349A>G
ENST00000316623.10:c.6740A>G MANE Select	ENSP00000325527.5:p.Asp2247Gly
ENST00000674301.1:c.1844A>G	ENSP00000501333.1:n.1844A>G
ENST00000316623.9:c.6740A>G	ENSP00000325527.5:p.Asp2247Gly
ENST00000537463.6:c.*2503A>G	ENSP00000440294.2:n.*2503A>G
ENST00000559133.5:c.2047A>G
ENST00000560720.1:n.27A>G
NM_000138.4:c.6740A>G , LRG_778t1:c.6740A>G	NP_000129.3:p.Asp2247Gly
NM_000138.5:c.6740A>G MANE Select	NP_000129.3:p.Asp2247Gly