Canonical Allele Identifier: CA15838121
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48464998A>G
GRCh37 chr15:g.48757195A>G
gnomAD v2:
15:48757195 A / G
gnomAD v3:
15:48464998 A / G
gnomAD v4:
chr15-48464998-A-G
Joint Max Group AF 0.54604767 (AFR)
Genomes Max Group AF 0.54604767 (AFR)
ClinVar RCV:
RCV001001491
ClinVar Variation:
811538
dbSNP:
10519177
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48464998A>G , CM000677.2:g.48464998A>G GRCh38
NC_000015.9:g.48757195A>G , CM000677.1:g.48757195A>G GRCh37
NC_000015.8:g.46544487A>G NCBI36
NG_008805.2:g.185791T>C , LRG_778:g.185791T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4942+570T>C ENSP00000453958.2:n.4942+570T>C
ENST00000674301.2:c.4942+570T>C ENSP00000501333.2:n.4942+570T>C
ENST00000684448.1:n.3616+570T>C
ENST00000316623.10:c.4942+570T>C MANE Select ENSP00000325527.5:n.4942+570T>C
ENST00000316623.9:c.4942+570T>C ENSP00000325527.5:n.4942+570T>C
ENST00000537463.6:c.*705+570T>C ENSP00000440294.2:n.*705+570T>C
ENST00000559133.5:c.249+570T>C
NM_000138.4:c.4942+570T>C , LRG_778t1:c.4942+570T>C NP_000129.3:n.4942+570T>C
NM_000138.5:c.4942+570T>C MANE Select NP_000129.3:n.4942+570T>C
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