Canonical Allele Identifier: CA392339465

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549325
• ClinVar RCV Id: RCV000663843
• dbSNP Id: rs1555395638
• MyVariant Identifiers: chr15:g.48736738C>G (hg19) ; chr15:g.48444541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444541C>G , CM000677.2:g.48444541C>G	GRCh38
NC_000015.9:g.48736738C>G , CM000677.1:g.48736738C>G	GRCh37
NC_000015.8:g.46524030C>G	NCBI36
NG_008805.2:g.206248G>C , LRG_778:g.206248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037G>C	ENSP00000453958.2:p.Asp2013His
ENST00000674301.2:c.6037G>C	ENSP00000501333.2:p.Asp2013His
ENST00000684448.1:n.4711G>C
ENST00000316623.10:c.6037G>C MANE Select	ENSP00000325527.5:p.Asp2013His
ENST00000674301.1:c.1036G>C	ENSP00000501333.1:p.Asp346His
ENST00000316623.9:c.6037G>C	ENSP00000325527.5:p.Asp2013His
ENST00000537463.6:c.*1800G>C	ENSP00000440294.2:n.*1800G>C
ENST00000559133.5:c.1344G>C
ENST00000560820.1:n.157G>C
NM_000138.4:c.6037G>C , LRG_778t1:c.6037G>C	NP_000129.3:p.Asp2013His
NM_000138.5:c.6037G>C MANE Select	NP_000129.3:p.Asp2013His