Canonical Allele Identifier: CA269518382
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs187799549
gnomAD v2: 15-48701190-G-A
gnomAD v3: 15-48408993-G-A
gnomAD v4: 15-48408993-G-A
MyVariant Identifiers: chr15:g.48701190G>A (hg19) chr15:g.48408993G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48408993G>A , CM000677.2:g.48408993G>A GRCh38
NC_000015.9:g.48701190G>A , CM000677.1:g.48701190G>A GRCh37
NC_000015.8:g.46488482G>A NCBI36
NG_008805.2:g.241796C>T , LRG_778:g.241796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4794C>T
ENST00000682767.1:n.3910C>T
ENST00000316623.10:c.*1997C>T MANE Select ENSP00000325527.5:n.*1997C>T
ENST00000316623.9:c.*1997C>T ENSP00000325527.5:n.*1997C>T
NM_000138.4:c.*1997C>T , LRG_778t1:c.*1997C>T NP_000129.3:n.*1997C>T
NM_000138.5:c.*1997C>T MANE Select NP_000129.3:n.*1997C>T
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