Canonical Allele Identifier: CA657949262
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946456-G-T
COSMIC: COSN26726765
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946456G>T , CM000684.2:g.43946456G>T GRCh38
NC_000022.10:g.44342336G>T , CM000684.1:g.44342336G>T GRCh37
NC_000022.9:g.42673669G>T NCBI36
NG_008631.1:g.27718G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*74G>T MANE Select ENSP00000216180.3:n.*74G>T
ENST00000216180.7:c.*74G>T ENSP00000216180.3:n.*74G>T
ENST00000406117.6:c.*849+1661G>T ENSP00000384668.2:n.*849+1661G>T
ENST00000423180.2:c.*74G>T ENSP00000397987.2:n.*74G>T
NM_025225.2:c.*74G>T NP_079501.2:n.*74G>T
NM_025225.3:c.*74G>T MANE Select NP_079501.2:n.*74G>T
Search 100 bp 5'
Search 100 bp 3'