Canonical Allele Identifier: CA16614806
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406277
ClinVar RCV Id: RCV001383172 RCV003480638
dbSNP Id: rs1060501026
MyVariant Identifiers: chr15:g.48766496C>G (hg19) chr15:g.48474299C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474299C>G , CM000677.2:g.48474299C>G GRCh38
NC_000015.9:g.48766496C>G , CM000677.1:g.48766496C>G GRCh37
NC_000015.8:g.46553788C>G NCBI36
NG_008805.2:g.176490G>C , LRG_778:g.176490G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4166G>C ENSP00000453958.2:p.Cys1389Ser
ENST00000674301.2:c.4166G>C ENSP00000501333.2:p.Cys1389Ser
ENST00000684448.1:n.2840G>C
ENST00000316623.10:c.4166G>C MANE Select ENSP00000325527.5:p.Cys1389Ser
ENST00000316623.9:c.4166G>C ENSP00000325527.5:p.Cys1389Ser
ENST00000537463.6:c.838G>C ENSP00000440294.2:p.Val280Leu
NM_000138.4:c.4166G>C , LRG_778t1:c.4166G>C NP_000129.3:p.Cys1389Ser
NM_000138.5:c.4166G>C MANE Select NP_000129.3:p.Cys1389Ser
Search 100 bp 5'
Search 100 bp 3'