Canonical Allele Identifier: CA013984
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200015
ClinVar RCV Id: RCV000254660 RCV001048335
dbSNP Id: rs794728203
MyVariant Identifiers: chr15:g.48779628T>C (hg19) chr15:g.48487431T>C (hg38)
PubMed: PMID:11175294 PMID:17324963
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487431T>C , CM000677.2:g.48487431T>C GRCh38
NC_000015.9:g.48779628T>C , CM000677.1:g.48779628T>C GRCh37
NC_000015.8:g.46566920T>C NCBI36
NG_008805.2:g.163358A>G , LRG_778:g.163358A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3344A>G ENSP00000453958.2:p.Asp1115Gly
ENST00000674301.2:c.3344A>G ENSP00000501333.2:p.Asp1115Gly
ENST00000684448.1:n.2018A>G
ENST00000316623.10:c.3344A>G MANE Select ENSP00000325527.5:p.Asp1115Gly
ENST00000316623.9:c.3344A>G ENSP00000325527.5:p.Asp1115Gly
ENST00000537463.6:c.637-12781A>G ENSP00000440294.2:n.637-12781A>G
NM_000138.4:c.3344A>G , LRG_778t1:c.3344A>G NP_000129.3:p.Asp1115Gly
NM_000138.5:c.3344A>G MANE Select NP_000129.3:p.Asp1115Gly
Search 100 bp 5'
Search 100 bp 3'