Canonical Allele Identifier: CA10636141
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316348
ClinVar RCV Id: RCV000284890 RCV000285193 RCV000288541 RCV000323897 RCV000346828 RCV000372595 RCV000377073 RCV000401712
dbSNP Id: rs886051238
gnomAD v4: 15-48410052-C-A
MyVariant Identifiers: chr15:g.48702249C>A (hg19) chr15:g.48410052C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410052C>A , CM000677.2:g.48410052C>A GRCh38
NC_000015.9:g.48702249C>A , CM000677.1:g.48702249C>A GRCh37
NC_000015.8:g.46489541C>A NCBI36
NG_008805.2:g.240737G>T , LRG_778:g.240737G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682170.1:n.3735G>T
ENST00000682767.1:n.2851G>T
ENST00000316623.10:c.*938G>T MANE Select ENSP00000325527.5:n.*938G>T
ENST00000316623.9:c.*938G>T ENSP00000325527.5:n.*938G>T
NM_000138.4:c.*938G>T , LRG_778t1:c.*938G>T NP_000129.3:n.*938G>T
NM_000138.5:c.*938G>T MANE Select NP_000129.3:n.*938G>T
Search 100 bp 5'
Search 100 bp 3'