Canonical Allele Identifier: CA2407489770
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2050064352
gnomAD v4: 22-43946473-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946473C>T , CM000684.2:g.43946473C>T GRCh38
NC_000022.10:g.44342353C>T , CM000684.1:g.44342353C>T GRCh37
NC_000022.9:g.42673686C>T NCBI36
NG_008631.1:g.27735C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*91C>T MANE Select ENSP00000216180.3:n.*91C>T
ENST00000216180.7:c.*91C>T ENSP00000216180.3:n.*91C>T
ENST00000406117.6:c.*849+1678C>T ENSP00000384668.2:n.*849+1678C>T
ENST00000423180.2:c.*91C>T ENSP00000397987.2:n.*91C>T
NM_025225.2:c.*91C>T NP_079501.2:n.*91C>T
NM_025225.3:c.*91C>T MANE Select NP_079501.2:n.*91C>T
Search 100 bp 5'
Search 100 bp 3'