Canonical Allele Identifier: CA269526217
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210644
ClinVar RCV Id: RCV001581366
dbSNP Id: rs115971707
gnomAD v2: 15-48776362-G-A
gnomAD v3: 15-48484165-G-A
gnomAD v4: 15-48484165-G-A
MyVariant Identifiers: chr15:g.48776362G>A (hg19) chr15:g.48484165G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48484165G>A , CM000677.2:g.48484165G>A GRCh38
NC_000015.9:g.48776362G>A , CM000677.1:g.48776362G>A GRCh37
NC_000015.8:g.46563654G>A NCBI36
NG_008805.2:g.166624C>T , LRG_778:g.166624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3713-222C>T ENSP00000453958.2:n.3713-222C>T
ENST00000674301.2:c.3713-222C>T ENSP00000501333.2:n.3713-222C>T
ENST00000684448.1:n.2387-222C>T
ENST00000316623.10:c.3713-222C>T MANE Select ENSP00000325527.5:n.3713-222C>T
ENST00000316623.9:c.3713-222C>T ENSP00000325527.5:n.3713-222C>T
ENST00000537463.6:c.637-9515C>T ENSP00000440294.2:n.637-9515C>T
NM_000138.4:c.3713-222C>T , LRG_778t1:c.3713-222C>T NP_000129.3:n.3713-222C>T
NM_000138.5:c.3713-222C>T MANE Select NP_000129.3:n.3713-222C>T
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