Canonical Allele Identifier: CA392319861
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1738692
ClinVar RCV Id: RCV002327903
MyVariant Identifiers: chr15:g.48766456A>C (hg19) chr15:g.48474259A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474259A>C , CM000677.2:g.48474259A>C GRCh38
NC_000015.9:g.48766456A>C , CM000677.1:g.48766456A>C GRCh37
NC_000015.8:g.46553748A>C NCBI36
NG_008805.2:g.176530T>G , LRG_778:g.176530T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4206T>G ENSP00000453958.2:p.Cys1402Trp
ENST00000674301.2:c.4206T>G ENSP00000501333.2:p.Cys1402Trp
ENST00000684448.1:n.2880T>G
ENST00000316623.10:c.4206T>G MANE Select ENSP00000325527.5:p.Cys1402Trp
ENST00000316623.9:c.4206T>G ENSP00000325527.5:p.Cys1402Trp
ENST00000537463.6:c.878T>G ENSP00000440294.2:p.Val293Gly
NM_000138.4:c.4206T>G , LRG_778t1:c.4206T>G NP_000129.3:p.Cys1402Trp
NM_000138.5:c.4206T>G MANE Select NP_000129.3:p.Cys1402Trp
Search 100 bp 5'
Search 100 bp 3'