Canonical Allele Identifier: CA392340042

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2950335
• ClinVar RCV Id: RCV003807693
• dbSNP Id: rs2043151100
• MyVariant Identifiers: chr15:g.48737628G>C (hg19) ; chr15:g.48445431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445431G>C , CM000677.2:g.48445431G>C	GRCh38
NC_000015.9:g.48737628G>C , CM000677.1:g.48737628G>C	GRCh37
NC_000015.8:g.46524920G>C	NCBI36
NG_008805.2:g.205358C>G , LRG_778:g.205358C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5862C>G	ENSP00000453958.2:p.Phe1954Leu
ENST00000674301.2:c.5862C>G	ENSP00000501333.2:p.Phe1954Leu
ENST00000684448.1:n.4536C>G
ENST00000316623.10:c.5862C>G MANE Select	ENSP00000325527.5:p.Phe1954Leu
ENST00000674301.1:c.861C>G	ENSP00000501333.1:p.Phe287Leu
ENST00000316623.9:c.5862C>G	ENSP00000325527.5:p.Phe1954Leu
ENST00000537463.6:c.*1625C>G	ENSP00000440294.2:n.*1625C>G
ENST00000559133.5:c.1169C>G
NM_000138.4:c.5862C>G , LRG_778t1:c.5862C>G	NP_000129.3:p.Phe1954Leu
NM_000138.5:c.5862C>G MANE Select	NP_000129.3:p.Phe1954Leu