Canonical Allele Identifier: CA16619941
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419834
ClinVar RCV Id: RCV000487420
dbSNP Id: rs1064794139
MyVariant Identifiers: chr15:g.48720670T>C (hg19) chr15:g.48428473T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428473T>C , CM000677.2:g.48428473T>C GRCh38
NC_000015.9:g.48720670T>C , CM000677.1:g.48720670T>C GRCh37
NC_000015.8:g.46507962T>C NCBI36
NG_008805.2:g.222316A>G , LRG_778:g.222316A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6872-2A>G ENSP00000453958.2:n.6872-2A>G
ENST00000674301.2:c.*323-2A>G ENSP00000501333.2:n.*323-2A>G
ENST00000682170.1:n.481-2A>G
ENST00000682767.1:n.105A>G
ENST00000316623.10:c.6872-2A>G MANE Select ENSP00000325527.5:n.6872-2A>G
ENST00000674301.1:c.1976-2A>G ENSP00000501333.1:n.1976-2A>G
ENST00000316623.9:c.6872-2A>G ENSP00000325527.5:n.6872-2A>G
ENST00000559133.5:c.2179-2A>G
ENST00000560720.1:n.159-2A>G
NM_000138.4:c.6872-2A>G , LRG_778t1:c.6872-2A>G NP_000129.3:n.6872-2A>G
NM_000138.5:c.6872-2A>G MANE Select NP_000129.3:n.6872-2A>G
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