Canonical Allele Identifier: CA2657154836
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946453-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946453T>C , CM000684.2:g.43946453T>C GRCh38
NC_000022.10:g.44342333T>C , CM000684.1:g.44342333T>C GRCh37
NC_000022.9:g.42673666T>C NCBI36
NG_008631.1:g.27715T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*71T>C MANE Select ENSP00000216180.3:n.*71T>C
ENST00000216180.7:c.*71T>C ENSP00000216180.3:n.*71T>C
ENST00000406117.6:c.*849+1658T>C ENSP00000384668.2:n.*849+1658T>C
ENST00000423180.2:c.*71T>C ENSP00000397987.2:n.*71T>C
NM_025225.2:c.*71T>C NP_079501.2:n.*71T>C
NM_025225.3:c.*71T>C MANE Select NP_079501.2:n.*71T>C
Search 100 bp 5'
Search 100 bp 3'