Canonical Allele Identifier: CA015937
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48446825A>G
GRCh37 chr15:g.48739022A>G
gnomAD v2:
15:48739022 A / G
gnomAD v3:
15:48446825 A / G
gnomAD v4:
chr15-48446825-A-G
Joint Max Group AF 0.00304209 (SAS)
Genomes Max Group AF 0.00308797 (SAS)
Exomes Max Group AF 0.00296839 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446825A>G , CM000677.2:g.48446825A>G GRCh38
NC_000015.9:g.48739022A>G , CM000677.1:g.48739022A>G GRCh37
NC_000015.8:g.46526314A>G NCBI36
NG_008805.2:g.203964T>C , LRG_778:g.203964T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5672-3T>C ENSP00000453958.2:n.5672-3T>C
ENST00000674301.2:c.5672-3T>C ENSP00000501333.2:n.5672-3T>C
ENST00000684448.1:n.4346-3T>C
ENST00000316623.10:c.5672-3T>C MANE Select ENSP00000325527.5:n.5672-3T>C
ENST00000674301.1:c.671-3T>C ENSP00000501333.1:n.671-3T>C
ENST00000316623.9:c.5672-3T>C ENSP00000325527.5:n.5672-3T>C
ENST00000537463.6:c.*1435-3T>C ENSP00000440294.2:n.*1435-3T>C
ENST00000559133.5:c.979-3T>C
NM_000138.4:c.5672-3T>C , LRG_778t1:c.5672-3T>C NP_000129.3:n.5672-3T>C
NM_000138.5:c.5672-3T>C MANE Select NP_000129.3:n.5672-3T>C
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