Canonical Allele Identifier: CA411848043
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1337029528
gnomAD v2: 22-44342219-G-A
gnomAD v4: 22-43946339-G-A
MyVariant Identifiers: chr22:g.44342219G>A (hg19) chr22:g.43946339G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946339G>A , CM000684.2:g.43946339G>A GRCh38
NC_000022.10:g.44342219G>A , CM000684.1:g.44342219G>A GRCh37
NC_000022.9:g.42673552G>A NCBI36
NG_008631.1:g.27601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1403G>A MANE Select ENSP00000216180.3:p.Gly468Glu
ENST00000216180.7:c.1403G>A ENSP00000216180.3:p.Gly468Glu
ENST00000406117.6:c.*849+1544G>A ENSP00000384668.2:n.*849+1544G>A
ENST00000423180.2:c.1391G>A ENSP00000397987.2:p.Gly464Glu
NM_025225.2:c.1403G>A NP_079501.2:p.Gly468Glu
NM_025225.3:c.1403G>A MANE Select NP_079501.2:p.Gly468Glu
Search 100 bp 5'
Search 100 bp 3'