Canonical Allele Identifier: CA017067
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16461
ClinVar RCV Id: RCV000017924 RCV000017925 RCV000181681 RCV000515367 RCV000631968 RCV002307365 RCV001170326
dbSNP Id: rs137854480
gnomAD v4: 15-48537629-G-A
MyVariant Identifiers: chr15:g.48829826G>A (hg19) chr15:g.48537629G>A (hg38)
PubMed: PMID:7802039 PMID:9399842 PMID:11700157 PMID:11826022 PMID:12446365 PMID:14695540 PMID:15054843 PMID:17701892 PMID:20375004
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48537629G>A , CM000677.2:g.48537629G>A GRCh38
NC_000015.9:g.48829826G>A , CM000677.1:g.48829826G>A GRCh37
NC_000015.8:g.46617118G>A NCBI36
NG_008805.2:g.113160C>T , LRG_778:g.113160C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.718C>T ENSP00000453958.2:p.Arg240Cys
ENST00000674301.2:c.718C>T ENSP00000501333.2:p.Arg240Cys
ENST00000316623.10:c.718C>T MANE Select ENSP00000325527.5:p.Arg240Cys
ENST00000316623.9:c.718C>T ENSP00000325527.5:p.Arg240Cys
ENST00000537463.6:c.636+82C>T ENSP00000440294.2:n.636+82C>T
NM_000138.4:c.718C>T , LRG_778t1:c.718C>T NP_000129.3:p.Arg240Cys
NM_000138.5:c.718C>T MANE Select NP_000129.3:p.Arg240Cys
Search 100 bp 5'
Search 100 bp 3'