Canonical Allele Identifier: CA617838152
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48452699G>T
GRCh37 chr15:g.48744896G>T
gnomAD v2:
15:48744896 G / T
gnomAD v3:
15:48452699 G / T
gnomAD v4:
chr15-48452699-G-T
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
487672
ClinVar RCV:
RCV000586354
RCV002530896
ClinVar Variation:
495621
dbSNP:
1426894149
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48452699G>T , CM000677.2:g.48452699G>T GRCh38
NC_000015.9:g.48744896G>T , CM000677.1:g.48744896G>T GRCh37
NC_000015.8:g.46532188G>T NCBI36
NG_008805.2:g.198090C>A , LRG_778:g.198090C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5423-15C>A ENSP00000453958.2:n.5423-15C>A
ENST00000674301.2:c.5423-15C>A ENSP00000501333.2:n.5423-15C>A
ENST00000684448.1:n.4097-15C>A
ENST00000316623.10:c.5423-15C>A MANE Select ENSP00000325527.5:n.5423-15C>A
ENST00000674301.1:c.422-15C>A ENSP00000501333.1:n.422-15C>A
ENST00000316623.9:c.5423-15C>A ENSP00000325527.5:n.5423-15C>A
ENST00000537463.6:c.*1186-15C>A ENSP00000440294.2:n.*1186-15C>A
ENST00000559133.5:c.730-15C>A
NM_000138.4:c.5423-15C>A , LRG_778t1:c.5423-15C>A NP_000129.3:n.5423-15C>A
NM_000138.5:c.5423-15C>A MANE Select NP_000129.3:n.5423-15C>A
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