Canonical Allele Identifier: CA411847548
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1253353954
gnomAD v2: 22-44342086-G-A
gnomAD v4: 22-43946206-G-A
MyVariant Identifiers: chr22:g.44342086G>A (hg19) chr22:g.43946206G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946206G>A , CM000684.2:g.43946206G>A GRCh38
NC_000022.10:g.44342086G>A , CM000684.1:g.44342086G>A GRCh37
NC_000022.9:g.42673419G>A NCBI36
NG_008631.1:g.27468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1270G>A MANE Select ENSP00000216180.3:p.Asp424Asn
ENST00000216180.7:c.1270G>A ENSP00000216180.3:p.Asp424Asn
ENST00000406117.6:c.*849+1411G>A ENSP00000384668.2:n.*849+1411G>A
ENST00000423180.2:c.1258G>A ENSP00000397987.2:p.Asp420Asn
NM_025225.2:c.1270G>A NP_079501.2:p.Asp424Asn
NM_025225.3:c.1270G>A MANE Select NP_079501.2:p.Asp424Asn
Search 100 bp 5'
Search 100 bp 3'