Canonical Allele Identifier: CA2175508462
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043115644
gnomAD v4: 15-48441622-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441622C>T , CM000677.2:g.48441622C>T GRCh38
NC_000015.9:g.48733819C>T , CM000677.1:g.48733819C>T GRCh37
NC_000015.8:g.46521111C>T NCBI36
NG_008805.2:g.209167G>A , LRG_778:g.209167G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6163+99G>A ENSP00000453958.2:n.6163+99G>A
ENST00000674301.2:c.6163+99G>A ENSP00000501333.2:n.6163+99G>A
ENST00000316623.10:c.6163+99G>A MANE Select ENSP00000325527.5:n.6163+99G>A
ENST00000674301.1:c.1162+99G>A ENSP00000501333.1:n.1162+99G>A
ENST00000316623.9:c.6163+99G>A ENSP00000325527.5:n.6163+99G>A
ENST00000537463.6:c.*1926+99G>A ENSP00000440294.2:n.*1926+99G>A
ENST00000559133.5:c.1470+99G>A
ENST00000560820.1:n.283+99G>A
NM_000138.4:c.6163+99G>A , LRG_778t1:c.6163+99G>A NP_000129.3:n.6163+99G>A
NM_000138.5:c.6163+99G>A MANE Select NP_000129.3:n.6163+99G>A
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