Canonical Allele Identifier: CA10278266
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs76510336
ExAC: 22:44342175 C / T
gnomAD v2: 22-44342175-C-T
gnomAD v3: 22-43946295-C-T
gnomAD v4: 22-43946295-C-T
MyVariant Identifiers: chr22:g.44342175C>T (hg19) chr22:g.43946295C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946295C>T , CM000684.2:g.43946295C>T GRCh38
NC_000022.10:g.44342175C>T , CM000684.1:g.44342175C>T GRCh37
NC_000022.9:g.42673508C>T NCBI36
NG_008631.1:g.27557C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.1359C>T MANE Select ENSP00000216180.3:p.Ser453=
ENST00000216180.7:c.1359C>T ENSP00000216180.3:p.Ser453=
ENST00000406117.6:c.*849+1500C>T ENSP00000384668.2:n.*849+1500C>T
ENST00000423180.2:c.1347C>T ENSP00000397987.2:p.Ser449=
NM_025225.2:c.1359C>T NP_079501.2:p.Ser453=
NM_025225.3:c.1359C>T MANE Select NP_079501.2:p.Ser453=
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