Canonical Allele Identifier: CA913188644

Gene: FBN1

Linked Data

• ClinVar Variation Id: 927747
• ClinVar RCV Id: RCV001191233
• dbSNP Id: rs2043387174

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472688A>C , CM000677.2:g.48472688A>C	GRCh38
NC_000015.9:g.48764885A>C , CM000677.1:g.48764885A>C	GRCh37
NC_000015.8:g.46552177A>C	NCBI36
NG_008805.2:g.178101T>G , LRG_778:g.178101T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4211-12T>G	ENSP00000453958.2:n.4211-12T>G
ENST00000674301.2:c.4211-12T>G	ENSP00000501333.2:n.4211-12T>G
ENST00000683268.1:n.166T>G
ENST00000684448.1:n.2885-12T>G
ENST00000316623.10:c.4211-12T>G MANE Select	ENSP00000325527.5:n.4211-12T>G
ENST00000316623.9:c.4211-12T>G	ENSP00000325527.5:n.4211-12T>G
ENST00000537463.6:c.883-12T>G	ENSP00000440294.2:n.883-12T>G
NM_000138.4:c.4211-12T>G , LRG_778t1:c.4211-12T>G	NP_000129.3:n.4211-12T>G
NM_000138.5:c.4211-12T>G MANE Select	NP_000129.3:n.4211-12T>G