Canonical Allele Identifier: CA411860144
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776468
gnomAD v4: 22-43928848-C-A
MyVariant Identifiers: chr22:g.44324728C>A (hg19) chr22:g.43928848C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928848C>A , CM000684.2:g.43928848C>A GRCh38
NC_000022.10:g.44324728C>A , CM000684.1:g.44324728C>A GRCh37
NC_000022.9:g.42656061C>A NCBI36
NG_008631.1:g.10110C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.445C>A MANE Select ENSP00000216180.3:p.Pro149Thr
ENST00000216180.7:c.445C>A ENSP00000216180.3:p.Pro149Thr
ENST00000406117.6:c.*77C>A ENSP00000384668.2:n.*77C>A
ENST00000423180.2:c.433C>A ENSP00000397987.2:p.Pro145Thr
ENST00000478713.1:n.479C>A
NM_025225.2:c.445C>A NP_079501.2:p.Pro149Thr
NM_025225.3:c.445C>A MANE Select NP_079501.2:p.Pro149Thr
Search 100 bp 5'
Search 100 bp 3'