Canonical Allele Identifier: CA1026100577
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049945350
gnomAD v3: 22-43929183-T-C
gnomAD v4: 22-43929183-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929183T>C , CM000684.2:g.43929183T>C GRCh38
NC_000022.10:g.44325063T>C , CM000684.1:g.44325063T>C GRCh37
NC_000022.9:g.42656396T>C NCBI36
NG_008631.1:g.10445T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+294T>C MANE Select ENSP00000216180.3:n.486+294T>C
ENST00000216180.7:c.486+294T>C ENSP00000216180.3:n.486+294T>C
ENST00000406117.6:c.*118+294T>C ENSP00000384668.2:n.*118+294T>C
ENST00000423180.2:c.474+294T>C ENSP00000397987.2:n.474+294T>C
ENST00000478713.1:n.520+294T>C
NM_025225.2:c.486+294T>C NP_079501.2:n.486+294T>C
NM_025225.3:c.486+294T>C MANE Select NP_079501.2:n.486+294T>C
Search 100 bp 5'
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