Canonical Allele Identifier: CA411860099
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776375
MyVariant Identifiers: chr22:g.44324709G>C (hg19) chr22:g.43928829G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928829G>C , CM000684.2:g.43928829G>C GRCh38
NC_000022.10:g.44324709G>C , CM000684.1:g.44324709G>C GRCh37
NC_000022.9:g.42656042G>C NCBI36
NG_008631.1:g.10091G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.426G>C MANE Select ENSP00000216180.3:p.Leu142Phe
ENST00000216180.7:c.426G>C ENSP00000216180.3:p.Leu142Phe
ENST00000406117.6:c.*58G>C ENSP00000384668.2:n.*58G>C
ENST00000423180.2:c.414G>C ENSP00000397987.2:p.Leu138Phe
ENST00000478713.1:n.460G>C
NM_025225.2:c.426G>C NP_079501.2:p.Leu142Phe
NM_025225.3:c.426G>C MANE Select NP_079501.2:p.Leu142Phe
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