Canonical Allele Identifier: CA411860101
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs763850644

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928830G>C , CM000684.2:g.43928830G>C GRCh38
NC_000022.10:g.44324710G>C , CM000684.1:g.44324710G>C GRCh37
NC_000022.9:g.42656043G>C NCBI36
NG_008631.1:g.10092G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.427G>C MANE Select ENSP00000216180.3:p.Val143Leu
ENST00000216180.7:c.427G>C ENSP00000216180.3:p.Val143Leu
ENST00000406117.6:c.*59G>C ENSP00000384668.2:n.*59G>C
ENST00000423180.2:c.415G>C ENSP00000397987.2:p.Val139Leu
ENST00000478713.1:n.461G>C
NM_025225.2:c.427G>C NP_079501.2:p.Val143Leu
NM_025225.3:c.427G>C MANE Select NP_079501.2:p.Val143Leu