Canonical Allele Identifier: CA2407482070
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43930058G= , CM000684.2:g.43930058G= GRCh38
NC_000022.10:g.44325938G= , CM000684.1:g.44325938G= GRCh37
NC_000022.9:g.42657271G= NCBI36
NG_008631.1:g.11320G=

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.486+1169G= MANE Select ENSP00000216180.3:n.486+1169G=
ENST00000216180.7:c.486+1169G= ENSP00000216180.3:n.486+1169G=
ENST00000406117.6:c.*118+1169G= ENSP00000384668.2:n.*118+1169G=
ENST00000423180.2:c.474+1169G= ENSP00000397987.2:n.474+1169G=
ENST00000478713.1:n.520+1169G=
NM_025225.2:c.486+1169G= NP_079501.2:n.486+1169G=
NM_025225.3:c.486+1169G= MANE Select NP_079501.2:n.486+1169G=