Canonical Allele Identifier: CA753429228
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1230793848
gnomAD v3: 22-43929132-A-G
gnomAD v4: 22-43929132-A-G
MyVariant Identifiers: chr22:g.44325012A>G (hg19) chr22:g.43929132A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929132A>G , CM000684.2:g.43929132A>G GRCh38
NC_000022.10:g.44325012A>G , CM000684.1:g.44325012A>G GRCh37
NC_000022.9:g.42656345A>G NCBI36
NG_008631.1:g.10394A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+243A>G MANE Select ENSP00000216180.3:n.486+243A>G
ENST00000216180.7:c.486+243A>G ENSP00000216180.3:n.486+243A>G
ENST00000406117.6:c.*118+243A>G ENSP00000384668.2:n.*118+243A>G
ENST00000423180.2:c.474+243A>G ENSP00000397987.2:n.474+243A>G
ENST00000478713.1:n.520+243A>G
NM_025225.2:c.486+243A>G NP_079501.2:n.486+243A>G
NM_025225.3:c.486+243A>G MANE Select NP_079501.2:n.486+243A>G
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