Canonical Allele Identifier: CA618009155
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1194414727
gnomAD v2: 15-48703138-C-T
gnomAD v3: 15-48410941-C-T
gnomAD v4: 15-48410941-C-T
MyVariant Identifiers: chr15:g.48703138C>T (hg19) chr15:g.48410941C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410941C>T , CM000677.2:g.48410941C>T GRCh38
NC_000015.9:g.48703138C>T , CM000677.1:g.48703138C>T GRCh37
NC_000015.8:g.46490430C>T NCBI36
NG_008805.2:g.239848G>A , LRG_778:g.239848G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1473G>A ENSP00000453958.2:n.*1473G>A
ENST00000682158.1:n.2046G>A
ENST00000682170.1:n.2846G>A
ENST00000682767.1:n.1962G>A
ENST00000316623.10:c.*49G>A MANE Select ENSP00000325527.5:n.*49G>A
ENST00000316623.9:c.*49G>A ENSP00000325527.5:n.*49G>A
ENST00000559133.5:c.4034G>A
NM_000138.4:c.*49G>A , LRG_778t1:c.*49G>A NP_000129.3:n.*49G>A
NM_000138.5:c.*49G>A MANE Select NP_000129.3:n.*49G>A
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