Canonical Allele Identifier: CA411860141
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776434
COSMIC: COSM1751913
MyVariant Identifiers: chr22:g.44324726T>C (hg19) chr22:g.43928846T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928846T>C , CM000684.2:g.43928846T>C GRCh38
NC_000022.10:g.44324726T>C , CM000684.1:g.44324726T>C GRCh37
NC_000022.9:g.42656059T>C NCBI36
NG_008631.1:g.10108T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.443T>C MANE Select ENSP00000216180.3:p.Ile148Thr
ENST00000216180.7:c.443T>C ENSP00000216180.3:p.Ile148Thr
ENST00000406117.6:c.*75T>C ENSP00000384668.2:n.*75T>C
ENST00000423180.2:c.431T>C ENSP00000397987.2:p.Ile144Thr
ENST00000478713.1:n.477T>C
NM_025225.2:c.443T>C NP_079501.2:p.Ile148Thr
NM_025225.3:c.443T>C MANE Select NP_079501.2:p.Ile148Thr
Search 100 bp 5'
Search 100 bp 3'