Canonical Allele Identifier: CA015012

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42360
• ClinVar RCV Id: RCV000035199 ; RCV003485528
• dbSNP Id: rs397515805
• MyVariant Identifiers: chr15:g.48762923C>G (hg19) ; chr15:g.48470726C>G (hg38)
• PubMed: PMID:10486319 ; PMID:19293843

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48470726C>G , CM000677.2:g.48470726C>G	GRCh38
NC_000015.9:g.48762923C>G , CM000677.1:g.48762923C>G	GRCh37
NC_000015.8:g.46550215C>G	NCBI36
NG_008805.2:g.180063G>C , LRG_778:g.180063G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4367G>C	ENSP00000453958.2:p.Cys1456Ser
ENST00000674301.2:c.4367G>C	ENSP00000501333.2:p.Cys1456Ser
ENST00000683268.1:n.334G>C
ENST00000684448.1:n.3041G>C
ENST00000316623.10:c.4367G>C MANE Select	ENSP00000325527.5:p.Cys1456Ser
ENST00000316623.9:c.4367G>C	ENSP00000325527.5:p.Cys1456Ser
ENST00000537463.6:c.*130G>C	ENSP00000440294.2:n.*130G>C
NM_000138.4:c.4367G>C , LRG_778t1:c.4367G>C	NP_000129.3:p.Cys1456Ser
NM_000138.5:c.4367G>C MANE Select	NP_000129.3:p.Cys1456Ser