Canonical Allele Identifier: CA2580089703

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1712791
• ClinVar RCV Id: RCV002300963 ; RCV003097877

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446826G>C , CM000677.2:g.48446826G>C	GRCh38
NC_000015.9:g.48739023G>C , CM000677.1:g.48739023G>C	GRCh37
NC_000015.8:g.46526315G>C	NCBI36
NG_008805.2:g.203963C>G , LRG_778:g.203963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5672-4C>G	ENSP00000453958.2:n.5672-4C>G
ENST00000674301.2:c.5672-4C>G	ENSP00000501333.2:n.5672-4C>G
ENST00000684448.1:n.4346-4C>G
ENST00000316623.10:c.5672-4C>G MANE Select	ENSP00000325527.5:n.5672-4C>G
ENST00000674301.1:c.671-4C>G	ENSP00000501333.1:n.671-4C>G
ENST00000316623.9:c.5672-4C>G	ENSP00000325527.5:n.5672-4C>G
ENST00000537463.6:c.*1435-4C>G	ENSP00000440294.2:n.*1435-4C>G
ENST00000559133.5:c.979-4C>G
NM_000138.4:c.5672-4C>G , LRG_778t1:c.5672-4C>G	NP_000129.3:n.5672-4C>G
NM_000138.5:c.5672-4C>G MANE Select	NP_000129.3:n.5672-4C>G