Canonical Allele Identifier: CA014969

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200034
• ClinVar RCV Id: RCV000181506 ; RCV000659542 ; RCV002314681
• dbSNP Id: rs794728216
• MyVariant Identifiers: chr15:g.48762955T>C (hg19) ; chr15:g.48470758T>C (hg38)
• PubMed: PMID:17657824 ; PMID:21907952 ; PMID:25101912 ; PMID:25652356

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48470758T>C , CM000677.2:g.48470758T>C	GRCh38
NC_000015.9:g.48762955T>C , CM000677.1:g.48762955T>C	GRCh37
NC_000015.8:g.46550247T>C	NCBI36
NG_008805.2:g.180031A>G , LRG_778:g.180031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4337-2A>G	ENSP00000453958.2:n.4337-2A>G
ENST00000674301.2:c.4337-2A>G	ENSP00000501333.2:n.4337-2A>G
ENST00000683268.1:n.304-2A>G
ENST00000684448.1:n.3011-2A>G
ENST00000316623.10:c.4337-2A>G MANE Select	ENSP00000325527.5:n.4337-2A>G
ENST00000316623.9:c.4337-2A>G	ENSP00000325527.5:n.4337-2A>G
ENST00000537463.6:c.*100-2A>G	ENSP00000440294.2:n.*100-2A>G
NM_000138.4:c.4337-2A>G , LRG_778t1:c.4337-2A>G	NP_000129.3:n.4337-2A>G
NM_000138.5:c.4337-2A>G MANE Select	NP_000129.3:n.4337-2A>G