Canonical Allele Identifier: CA411847587
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44342096G>C (hg19) chr22:g.43946216G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946216G>C , CM000684.2:g.43946216G>C GRCh38
NC_000022.10:g.44342096G>C , CM000684.1:g.44342096G>C GRCh37
NC_000022.9:g.42673429G>C NCBI36
NG_008631.1:g.27478G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1280G>C MANE Select ENSP00000216180.3:p.Cys427Ser
ENST00000216180.7:c.1280G>C ENSP00000216180.3:p.Cys427Ser
ENST00000406117.6:c.*849+1421G>C ENSP00000384668.2:n.*849+1421G>C
ENST00000423180.2:c.1268G>C ENSP00000397987.2:p.Cys423Ser
NM_025225.2:c.1280G>C NP_079501.2:p.Cys427Ser
NM_025225.3:c.1280G>C MANE Select NP_079501.2:p.Cys427Ser
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