Canonical Allele Identifier: CA392324623
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547312
ClinVar RCV Id: RCV000659530
dbSNP Id: rs1555398409
MyVariant Identifiers: chr15:g.48777666C>T (hg19) chr15:g.48485469C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485469C>T , CM000677.2:g.48485469C>T GRCh38
NC_000015.9:g.48777666C>T , CM000677.1:g.48777666C>T GRCh37
NC_000015.8:g.46564958C>T NCBI36
NG_008805.2:g.165320G>A , LRG_778:g.165320G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3617G>A ENSP00000453958.2:p.Gly1206Asp
ENST00000674301.2:c.3617G>A ENSP00000501333.2:p.Gly1206Asp
ENST00000684448.1:n.2291G>A
ENST00000316623.10:c.3617G>A MANE Select ENSP00000325527.5:p.Gly1206Asp
ENST00000316623.9:c.3617G>A ENSP00000325527.5:p.Gly1206Asp
ENST00000537463.6:c.637-10819G>A ENSP00000440294.2:n.637-10819G>A
NM_000138.4:c.3617G>A , LRG_778t1:c.3617G>A NP_000129.3:p.Gly1206Asp
NM_000138.5:c.3617G>A MANE Select NP_000129.3:p.Gly1206Asp
Search 100 bp 5'
Search 100 bp 3'