Canonical Allele Identifier: CA013619
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42322
ClinVar RCV Id: RCV000035157
dbSNP Id: rs397515782
MyVariant Identifiers: chr15:g.48902972C>A (hg19) chr15:g.48610775C>A (hg38)
PubMed: PMID:10486319 PMID:19533785
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48610775C>A , CM000677.2:g.48610775C>A GRCh38
NC_000015.9:g.48902972C>A , CM000677.1:g.48902972C>A GRCh37
NC_000015.8:g.46690264C>A NCBI36
NG_008805.2:g.40014G>T , LRG_778:g.40014G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.299G>T ENSP00000453958.2:p.Cys100Phe
ENST00000674301.2:c.299G>T ENSP00000501333.2:p.Cys100Phe
ENST00000316623.10:c.299G>T MANE Select ENSP00000325527.5:p.Cys100Phe
ENST00000316623.9:c.299G>T ENSP00000325527.5:p.Cys100Phe
ENST00000537463.6:c.299G>T ENSP00000440294.2:p.Cys100Phe
NM_000138.4:c.299G>T , LRG_778t1:c.299G>T NP_000129.3:p.Cys100Phe
NM_000138.5:c.299G>T MANE Select NP_000129.3:p.Cys100Phe
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