Canonical Allele Identifier: CA639583307
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1446148055
gnomAD v2: 22-44325048-G-C
gnomAD v3: 22-43929168-G-C
gnomAD v4: 22-43929168-G-C
MyVariant Identifiers: chr22:g.44325048G>C (hg19) chr22:g.43929168G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929168G>C , CM000684.2:g.43929168G>C GRCh38
NC_000022.10:g.44325048G>C , CM000684.1:g.44325048G>C GRCh37
NC_000022.9:g.42656381G>C NCBI36
NG_008631.1:g.10430G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+279G>C MANE Select ENSP00000216180.3:n.486+279G>C
ENST00000216180.7:c.486+279G>C ENSP00000216180.3:n.486+279G>C
ENST00000406117.6:c.*118+279G>C ENSP00000384668.2:n.*118+279G>C
ENST00000423180.2:c.474+279G>C ENSP00000397987.2:n.474+279G>C
ENST00000478713.1:n.520+279G>C
NM_025225.2:c.486+279G>C NP_079501.2:n.486+279G>C
NM_025225.3:c.486+279G>C MANE Select NP_079501.2:n.486+279G>C
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