Canonical Allele Identifier: CA051782
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926641
ClinVar RCV Id: RCV001189334
dbSNP Id: rs748242564
ExAC: 15:48766858 G / T
gnomAD v2: 15-48766858-G-T
gnomAD v3: 15-48474661-G-T
gnomAD v4: 15-48474661-G-T
MyVariant Identifiers: chr15:g.48766858G>T (hg19) chr15:g.48474661G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474661G>T , CM000677.2:g.48474661G>T GRCh38
NC_000015.9:g.48766858G>T , CM000677.1:g.48766858G>T GRCh37
NC_000015.8:g.46554150G>T NCBI36
NG_008805.2:g.176128C>A , LRG_778:g.176128C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3965-11C>A ENSP00000453958.2:n.3965-11C>A
ENST00000674301.2:c.3965-11C>A ENSP00000501333.2:n.3965-11C>A
ENST00000684448.1:n.2639-11C>A
ENST00000316623.10:c.3965-11C>A MANE Select ENSP00000325527.5:n.3965-11C>A
ENST00000316623.9:c.3965-11C>A ENSP00000325527.5:n.3965-11C>A
ENST00000537463.6:c.637-11C>A ENSP00000440294.2:n.637-11C>A
NM_000138.4:c.3965-11C>A , LRG_778t1:c.3965-11C>A NP_000129.3:n.3965-11C>A
NM_000138.5:c.3965-11C>A MANE Select NP_000129.3:n.3965-11C>A
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