Canonical Allele Identifier: CA753429175
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1442233408
gnomAD v3: 22-43929005-C-T
gnomAD v4: 22-43929005-C-T
MyVariant Identifiers: chr22:g.44324885C>T (hg19) chr22:g.43929005C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929005C>T , CM000684.2:g.43929005C>T GRCh38
NC_000022.10:g.44324885C>T , CM000684.1:g.44324885C>T GRCh37
NC_000022.9:g.42656218C>T NCBI36
NG_008631.1:g.10267C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+116C>T MANE Select ENSP00000216180.3:n.486+116C>T
ENST00000216180.7:c.486+116C>T ENSP00000216180.3:n.486+116C>T
ENST00000406117.6:c.*118+116C>T ENSP00000384668.2:n.*118+116C>T
ENST00000423180.2:c.474+116C>T ENSP00000397987.2:n.474+116C>T
ENST00000478713.1:n.520+116C>T
NM_025225.2:c.486+116C>T NP_079501.2:n.486+116C>T
NM_025225.3:c.486+116C>T MANE Select NP_079501.2:n.486+116C>T
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