Canonical Allele Identifier: CA411847456
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1410311259
gnomAD v2: 22-44342059-C-A
gnomAD v4: 22-43946179-C-A
MyVariant Identifiers: chr22:g.44342059C>A (hg19) chr22:g.43946179C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946179C>A , CM000684.2:g.43946179C>A GRCh38
NC_000022.10:g.44342059C>A , CM000684.1:g.44342059C>A GRCh37
NC_000022.9:g.42673392C>A NCBI36
NG_008631.1:g.27441C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1243C>A MANE Select ENSP00000216180.3:p.Gln415Lys
ENST00000216180.7:c.1243C>A ENSP00000216180.3:p.Gln415Lys
ENST00000406117.6:c.*849+1384C>A ENSP00000384668.2:n.*849+1384C>A
ENST00000423180.2:c.1231C>A ENSP00000397987.2:p.Gln411Lys
NM_025225.2:c.1243C>A NP_079501.2:p.Gln415Lys
NM_025225.3:c.1243C>A MANE Select NP_079501.2:p.Gln415Lys
Search 100 bp 5'
Search 100 bp 3'