Canonical Allele Identifier: CA270058895
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1032848977
gnomAD v4: 15-48610673-A-C
MyVariant Identifiers: chr15:g.48902870A>C (hg19) chr15:g.48610673A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48610673A>C , CM000677.2:g.48610673A>C GRCh38
NC_000015.9:g.48902870A>C , CM000677.1:g.48902870A>C GRCh37
NC_000015.8:g.46690162A>C NCBI36
NG_008805.2:g.40116T>G , LRG_778:g.40116T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.346+55T>G ENSP00000453958.2:n.346+55T>G
ENST00000674301.2:c.346+55T>G ENSP00000501333.2:n.346+55T>G
ENST00000316623.10:c.346+55T>G MANE Select ENSP00000325527.5:n.346+55T>G
ENST00000316623.9:c.346+55T>G ENSP00000325527.5:n.346+55T>G
ENST00000537463.6:c.346+55T>G ENSP00000440294.2:n.346+55T>G
NM_000138.4:c.346+55T>G , LRG_778t1:c.346+55T>G NP_000129.3:n.346+55T>G
NM_000138.5:c.346+55T>G MANE Select NP_000129.3:n.346+55T>G
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