Canonical Allele Identifier: CA392338004

Gene: FBN1

Linked Data

• ClinVar Variation Id: 684600
• ClinVar RCV Id: RCV000984067
• dbSNP Id: rs1597529691
• MyVariant Identifiers: chr15:g.48733936T>C (hg19) ; chr15:g.48441739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441739T>C , CM000677.2:g.48441739T>C	GRCh38
NC_000015.9:g.48733936T>C , CM000677.1:g.48733936T>C	GRCh37
NC_000015.8:g.46521228T>C	NCBI36
NG_008805.2:g.209050A>G , LRG_778:g.209050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6145A>G	ENSP00000453958.2:p.Ser2049Gly
ENST00000674301.2:c.6145A>G	ENSP00000501333.2:p.Ser2049Gly
ENST00000316623.10:c.6145A>G MANE Select	ENSP00000325527.5:p.Ser2049Gly
ENST00000674301.1:c.1144A>G	ENSP00000501333.1:p.Ser382Gly
ENST00000316623.9:c.6145A>G	ENSP00000325527.5:p.Ser2049Gly
ENST00000537463.6:c.*1908A>G	ENSP00000440294.2:n.*1908A>G
ENST00000559133.5:c.1452A>G
ENST00000560820.1:n.265A>G
NM_000138.4:c.6145A>G , LRG_778t1:c.6145A>G	NP_000129.3:p.Ser2049Gly
NM_000138.5:c.6145A>G MANE Select	NP_000129.3:p.Ser2049Gly