Canonical Allele Identifier: CA324876753
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs954347321
gnomAD v2: 22-44324849-G-T
gnomAD v3: 22-43928969-G-T
gnomAD v4: 22-43928969-G-T
MyVariant Identifiers: chr22:g.44324849G>T (hg19) chr22:g.43928969G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928969G>T , CM000684.2:g.43928969G>T GRCh38
NC_000022.10:g.44324849G>T , CM000684.1:g.44324849G>T GRCh37
NC_000022.9:g.42656182G>T NCBI36
NG_008631.1:g.10231G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+80G>T MANE Select ENSP00000216180.3:n.486+80G>T
ENST00000216180.7:c.486+80G>T ENSP00000216180.3:n.486+80G>T
ENST00000406117.6:c.*118+80G>T ENSP00000384668.2:n.*118+80G>T
ENST00000423180.2:c.474+80G>T ENSP00000397987.2:n.474+80G>T
ENST00000478713.1:n.520+80G>T
NM_025225.2:c.486+80G>T NP_079501.2:n.486+80G>T
NM_025225.3:c.486+80G>T MANE Select NP_079501.2:n.486+80G>T
Search 100 bp 5'
Search 100 bp 3'