Canonical Allele Identifier: CA392339963

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3073708
• ClinVar RCV Id: RCV004016714
• MyVariant Identifiers: chr15:g.48737594G>C (hg19) ; chr15:g.48445397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445397G>C , CM000677.2:g.48445397G>C	GRCh38
NC_000015.9:g.48737594G>C , CM000677.1:g.48737594G>C	GRCh37
NC_000015.8:g.46524886G>C	NCBI36
NG_008805.2:g.205392C>G , LRG_778:g.205392C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5896C>G	ENSP00000453958.2:p.Pro1966Ala
ENST00000674301.2:c.5896C>G	ENSP00000501333.2:p.Pro1966Ala
ENST00000684448.1:n.4570C>G
ENST00000316623.10:c.5896C>G MANE Select	ENSP00000325527.5:p.Pro1966Ala
ENST00000674301.1:c.895C>G	ENSP00000501333.1:p.Pro299Ala
ENST00000316623.9:c.5896C>G	ENSP00000325527.5:p.Pro1966Ala
ENST00000537463.6:c.*1659C>G	ENSP00000440294.2:n.*1659C>G
ENST00000559133.5:c.1203C>G
ENST00000560820.1:n.16C>G
NM_000138.4:c.5896C>G , LRG_778t1:c.5896C>G	NP_000129.3:p.Pro1966Ala
NM_000138.5:c.5896C>G MANE Select	NP_000129.3:p.Pro1966Ala