Canonical Allele Identifier: CA411847642

Gene: PNPLA3

Linked Data

• MyVariant Identifiers: chr22:g.44342111C>T (hg19) ; chr22:g.43946231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946231C>T , CM000684.2:g.43946231C>T	GRCh38
NC_000022.10:g.44342111C>T , CM000684.1:g.44342111C>T	GRCh37
NC_000022.9:g.42673444C>T	NCBI36
NG_008631.1:g.27493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.1295C>T MANE Select	ENSP00000216180.3:p.Ser432Phe
ENST00000216180.7:c.1295C>T	ENSP00000216180.3:p.Ser432Phe
ENST00000406117.6:c.*849+1436C>T	ENSP00000384668.2:n.*849+1436C>T
ENST00000423180.2:c.1283C>T	ENSP00000397987.2:p.Ser428Phe
NM_025225.2:c.1295C>T	NP_079501.2:p.Ser432Phe
NM_025225.3:c.1295C>T MANE Select	NP_079501.2:p.Ser432Phe