Canonical Allele Identifier: CA2573150817
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1671474
ClinVar RCV Id: RCV002198957
dbSNP Id: rs2140737315
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48612990C>T , CM000677.2:g.48612990C>T GRCh38
NC_000015.9:g.48905187C>T , CM000677.1:g.48905187C>T GRCh37
NC_000015.8:g.46692479C>T NCBI36
NG_008805.2:g.37799G>A , LRG_778:g.37799G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.247+20G>A ENSP00000453958.2:n.247+20G>A
ENST00000674301.2:c.247+20G>A ENSP00000501333.2:n.247+20G>A
ENST00000316623.10:c.247+20G>A MANE Select ENSP00000325527.5:n.247+20G>A
ENST00000316623.9:c.247+20G>A ENSP00000325527.5:n.247+20G>A
ENST00000537463.6:c.247+20G>A ENSP00000440294.2:n.247+20G>A
NM_000138.4:c.247+20G>A , LRG_778t1:c.247+20G>A NP_000129.3:n.247+20G>A
NM_000138.5:c.247+20G>A MANE Select NP_000129.3:n.247+20G>A
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