Canonical Allele Identifier: CA016451

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16431
• ClinVar RCV Id: RCV000017893 ; RCV000524502 ; RCV001170530 ; RCV001836710
• dbSNP Id: rs137854461
• MyVariant Identifiers: chr15:g.48729223T>C (hg19) ; chr15:g.48437026T>C (hg38)
• PubMed: PMID:8504310

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437026T>C , CM000677.2:g.48437026T>C	GRCh38
NC_000015.9:g.48729223T>C , CM000677.1:g.48729223T>C	GRCh37
NC_000015.8:g.46516515T>C	NCBI36
NG_008805.2:g.213763A>G , LRG_778:g.213763A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6431A>G	ENSP00000453958.2:p.Asn2144Ser
ENST00000674301.2:c.6431A>G	ENSP00000501333.2:p.Asn2144Ser
ENST00000682170.1:n.40A>G
ENST00000316623.10:c.6431A>G MANE Select	ENSP00000325527.5:p.Asn2144Ser
ENST00000674301.1:c.1430A>G	ENSP00000501333.1:p.Asn477Ser
ENST00000316623.9:c.6431A>G	ENSP00000325527.5:p.Asn2144Ser
ENST00000537463.6:c.*2194A>G	ENSP00000440294.2:n.*2194A>G
ENST00000559133.5:c.1738A>G
NM_000138.4:c.6431A>G , LRG_778t1:c.6431A>G	NP_000129.3:p.Asn2144Ser
NM_000138.5:c.6431A>G MANE Select	NP_000129.3:p.Asn2144Ser