Canonical Allele Identifier: CA392335330

Gene: FBN1

Linked Data

• ClinVar Variation Id: 449437
• ClinVar RCV Id: RCV000523160 ; RCV000531397
• dbSNP Id: rs1555395015
• MyVariant Identifiers: chr15:g.48726904T>C (hg19) ; chr15:g.48434707T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434707T>C , CM000677.2:g.48434707T>C	GRCh38
NC_000015.9:g.48726904T>C , CM000677.1:g.48726904T>C	GRCh37
NC_000015.8:g.46514196T>C	NCBI36
NG_008805.2:g.216082A>G , LRG_778:g.216082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6503A>G	ENSP00000453958.2:p.Asp2168Gly
ENST00000674301.2:c.6503A>G	ENSP00000501333.2:p.Asp2168Gly
ENST00000682170.1:n.112A>G
ENST00000316623.10:c.6503A>G MANE Select	ENSP00000325527.5:p.Asp2168Gly
ENST00000674301.1:c.1502A>G	ENSP00000501333.1:p.Asp501Gly
ENST00000316623.9:c.6503A>G	ENSP00000325527.5:p.Asp2168Gly
ENST00000537463.6:c.*2266A>G	ENSP00000440294.2:n.*2266A>G
ENST00000559133.5:c.1810A>G
NM_000138.4:c.6503A>G , LRG_778t1:c.6503A>G	NP_000129.3:p.Asp2168Gly
NM_000138.5:c.6503A>G MANE Select	NP_000129.3:p.Asp2168Gly