Canonical Allele Identifier: CA324877002
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs937630694
gnomAD v3: 22-43930065-T-C
gnomAD v4: 22-43930065-T-C
MyVariant Identifiers: chr22:g.44325945T>C (hg19) chr22:g.43930065T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43930065T>C , CM000684.2:g.43930065T>C GRCh38
NC_000022.10:g.44325945T>C , CM000684.1:g.44325945T>C GRCh37
NC_000022.9:g.42657278T>C NCBI36
NG_008631.1:g.11327T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+1176T>C MANE Select ENSP00000216180.3:n.486+1176T>C
ENST00000216180.7:c.486+1176T>C ENSP00000216180.3:n.486+1176T>C
ENST00000406117.6:c.*118+1176T>C ENSP00000384668.2:n.*118+1176T>C
ENST00000423180.2:c.474+1176T>C ENSP00000397987.2:n.474+1176T>C
ENST00000478713.1:n.520+1176T>C
NM_025225.2:c.486+1176T>C NP_079501.2:n.486+1176T>C
NM_025225.3:c.486+1176T>C MANE Select NP_079501.2:n.486+1176T>C
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