Canonical Allele Identifier: CA392338060

Gene: FBN1

Linked Data

• ClinVar Variation Id: 927215
• ClinVar RCV Id: RCV001190333
• dbSNP Id: rs2043116675
• MyVariant Identifiers: chr15:g.48733947G>A (hg19) ; chr15:g.48441750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441750G>A , CM000677.2:g.48441750G>A	GRCh38
NC_000015.9:g.48733947G>A , CM000677.1:g.48733947G>A	GRCh37
NC_000015.8:g.46521239G>A	NCBI36
NG_008805.2:g.209039C>T , LRG_778:g.209039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6134C>T	ENSP00000453958.2:p.Ser2045Phe
ENST00000674301.2:c.6134C>T	ENSP00000501333.2:p.Ser2045Phe
ENST00000316623.10:c.6134C>T MANE Select	ENSP00000325527.5:p.Ser2045Phe
ENST00000674301.1:c.1133C>T	ENSP00000501333.1:p.Ser378Phe
ENST00000316623.9:c.6134C>T	ENSP00000325527.5:p.Ser2045Phe
ENST00000537463.6:c.*1897C>T	ENSP00000440294.2:n.*1897C>T
ENST00000559133.5:c.1441C>T
ENST00000560820.1:n.254C>T
NM_000138.4:c.6134C>T , LRG_778t1:c.6134C>T	NP_000129.3:p.Ser2045Phe
NM_000138.5:c.6134C>T MANE Select	NP_000129.3:p.Ser2045Phe