Canonical Allele Identifier: CA16042941

Gene: FBN1

Linked Data

• ClinVar Variation Id: 373085
• ClinVar RCV Id: RCV000414307 ; RCV001379798
• dbSNP Id: rs794728244
• MyVariant Identifiers: chr15:g.48730116T>C (hg19) ; chr15:g.48437919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437919T>C , CM000677.2:g.48437919T>C	GRCh38
NC_000015.9:g.48730116T>C , CM000677.1:g.48730116T>C	GRCh37
NC_000015.8:g.46517408T>C	NCBI36
NG_008805.2:g.212870A>G , LRG_778:g.212870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6164-2A>G	ENSP00000453958.2:n.6164-2A>G
ENST00000674301.2:c.6164-2A>G	ENSP00000501333.2:n.6164-2A>G
ENST00000316623.10:c.6164-2A>G MANE Select	ENSP00000325527.5:n.6164-2A>G
ENST00000674301.1:c.1163-2A>G	ENSP00000501333.1:n.1163-2A>G
ENST00000316623.9:c.6164-2A>G	ENSP00000325527.5:n.6164-2A>G
ENST00000537463.6:c.*1927-2A>G	ENSP00000440294.2:n.*1927-2A>G
ENST00000559133.5:c.1471-2A>G
ENST00000560820.1:n.284-2A>G
NM_000138.4:c.6164-2A>G , LRG_778t1:c.6164-2A>G	NP_000129.3:n.6164-2A>G
NM_000138.5:c.6164-2A>G MANE Select	NP_000129.3:n.6164-2A>G