Canonical Allele Identifier: CA269552490
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549233
ClinVar RCV Id: RCV000663729
dbSNP Id: rs113082854
MyVariant Identifiers: chr15:g.48760732C>G (hg19) chr15:g.48468535C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468535C>G , CM000677.2:g.48468535C>G GRCh38
NC_000015.9:g.48760732C>G , CM000677.1:g.48760732C>G GRCh37
NC_000015.8:g.46548024C>G NCBI36
NG_008805.2:g.182254G>C , LRG_778:g.182254G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4460-1G>C ENSP00000453958.2:n.4460-1G>C
ENST00000674301.2:c.4460-1G>C ENSP00000501333.2:n.4460-1G>C
ENST00000684448.1:n.3134-1G>C
ENST00000316623.10:c.4460-1G>C MANE Select ENSP00000325527.5:n.4460-1G>C
ENST00000316623.9:c.4460-1G>C ENSP00000325527.5:n.4460-1G>C
ENST00000537463.6:c.*223-1G>C ENSP00000440294.2:n.*223-1G>C
NM_000138.4:c.4460-1G>C , LRG_778t1:c.4460-1G>C NP_000129.3:n.4460-1G>C
NM_000138.5:c.4460-1G>C MANE Select NP_000129.3:n.4460-1G>C
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