Canonical Allele Identifier: CA392340282

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549047
• ClinVar RCV Id: RCV000663495
• dbSNP Id: rs1555399952
• MyVariant Identifiers: chr15:g.48800811A>G (hg19) ; chr15:g.48508614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508614A>G , CM000677.2:g.48508614A>G	GRCh38
NC_000015.9:g.48800811A>G , CM000677.1:g.48800811A>G	GRCh37
NC_000015.8:g.46588103A>G	NCBI36
NG_008805.2:g.142175T>C , LRG_778:g.142175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1805T>C	ENSP00000453958.2:p.Phe602Ser
ENST00000674301.2:c.1805T>C	ENSP00000501333.2:p.Phe602Ser
ENST00000684448.1:n.479T>C
ENST00000316623.10:c.1805T>C MANE Select	ENSP00000325527.5:p.Phe602Ser
ENST00000316623.9:c.1805T>C	ENSP00000325527.5:p.Phe602Ser
ENST00000537463.6:c.636+29097T>C	ENSP00000440294.2:n.636+29097T>C
NM_000138.4:c.1805T>C , LRG_778t1:c.1805T>C	NP_000129.3:p.Phe602Ser
NM_000138.5:c.1805T>C MANE Select	NP_000129.3:p.Phe602Ser