Canonical Allele Identifier: CA054221
Gene: FBN1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.48463252G>T
GRCh37 chr15:g.48755449G>T
gnomAD v2:
15:48755449 G / T
gnomAD v3:
15:48463252 G / T
gnomAD v4:
chr15-48463252-G-T
Joint Max Group AF 0.00050108 (EAS)
Genomes Max Group AF 0.00051297 (EAS)
Exomes Max Group AF 0.00043738 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463252G>T , CM000677.2:g.48463252G>T GRCh38
NC_000015.9:g.48755449G>T , CM000677.1:g.48755449G>T GRCh37
NC_000015.8:g.46542741G>T NCBI36
NG_008805.2:g.187537C>A , LRG_778:g.187537C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5066-12C>A ENSP00000453958.2:n.5066-12C>A
ENST00000674301.2:c.5066-12C>A ENSP00000501333.2:n.5066-12C>A
ENST00000684448.1:n.3740-12C>A
ENST00000316623.10:c.5066-12C>A MANE Select ENSP00000325527.5:n.5066-12C>A
ENST00000674301.1:c.65-12C>A ENSP00000501333.1:n.65-12C>A
ENST00000316623.9:c.5066-12C>A ENSP00000325527.5:n.5066-12C>A
ENST00000537463.6:c.*829-12C>A ENSP00000440294.2:n.*829-12C>A
ENST00000559133.5:c.373-12C>A
NM_000138.4:c.5066-12C>A , LRG_778t1:c.5066-12C>A NP_000129.3:n.5066-12C>A
NM_000138.5:c.5066-12C>A MANE Select NP_000129.3:n.5066-12C>A
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