Canonical Allele Identifier: CA011886

Gene: FBN1

Linked Data

• ClinVar Variation Id: 177856
• ClinVar RCV Id: RCV000154494 ; RCV001170323
• dbSNP Id: rs727504361
• MyVariant Identifiers: chr15:g.48812967A>G (hg19) ; chr15:g.48520770A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520770A>G , CM000677.2:g.48520770A>G	GRCh38
NC_000015.9:g.48812967A>G , CM000677.1:g.48812967A>G	GRCh37
NC_000015.8:g.46600259A>G	NCBI36
NG_008805.2:g.130019T>C , LRG_778:g.130019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1036T>C	ENSP00000453958.2:p.Ser346Pro
ENST00000674301.2:c.1036T>C	ENSP00000501333.2:p.Ser346Pro
ENST00000316623.10:c.1036T>C MANE Select	ENSP00000325527.5:p.Ser346Pro
ENST00000316623.9:c.1036T>C	ENSP00000325527.5:p.Ser346Pro
ENST00000537463.6:c.636+16941T>C	ENSP00000440294.2:n.636+16941T>C
NM_000138.4:c.1036T>C , LRG_778t1:c.1036T>C	NP_000129.3:p.Ser346Pro
NM_000138.5:c.1036T>C MANE Select	NP_000129.3:p.Ser346Pro