Canonical Allele Identifier: CA1026100249
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v3: 22-43928704-A-C
gnomAD v4: 22-43928704-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928704A>C , CM000684.2:g.43928704A>C GRCh38
NC_000022.10:g.44324584A>C , CM000684.1:g.44324584A>C GRCh37
NC_000022.9:g.42655917A>C NCBI36
NG_008631.1:g.9966A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.421-120A>C MANE Select ENSP00000216180.3:n.421-120A>C
ENST00000216180.7:c.421-120A>C ENSP00000216180.3:n.421-120A>C
ENST00000406117.6:c.*53-120A>C ENSP00000384668.2:n.*53-120A>C
ENST00000423180.2:c.409-120A>C ENSP00000397987.2:n.409-120A>C
ENST00000478713.1:n.455-120A>C
NM_025225.2:c.421-120A>C NP_079501.2:n.421-120A>C
NM_025225.3:c.421-120A>C MANE Select NP_079501.2:n.421-120A>C
Search 100 bp 5'
Search 100 bp 3'