Canonical Allele Identifier: CA10278268

Gene: PNPLA3

Linked Data

• dbSNP Id: rs147312179
• ExAC: 22:44342180 ACTT / A
• gnomAD v2: 22-44342180-ACTT-A
• gnomAD v3: 22-43946300-ACTT-A
• gnomAD v4: 22-43946300-ACTT-A
• MyVariant Identifiers: chr22:g.44342181_44342183del (hg19) ; chr22:g.43946302_43946304del (hg38) ; chr22:g.43946301_43946303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946307_43946309del , CM000684.2:g.43946307_43946309del	GRCh38
NC_000022.10:g.44342187_44342189del , CM000684.1:g.44342187_44342189del	GRCh37
NC_000022.9:g.42673520_42673522del	NCBI36
NG_008631.1:g.27569_27571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.1371_1373del MANE Select	ENSP00000216180.3:p.Phe457del
ENST00000216180.7:c.1371_1373del	ENSP00000216180.3:p.Phe457del
ENST00000406117.6:c.*849+1512_*849+1514del	ENSP00000384668.2:n.*849+1512_*849+1514del
ENST00000423180.2:c.1359_1361del	ENSP00000397987.2:p.Phe453del
NM_025225.2:c.1371_1373del	NP_079501.2:p.Phe457del
NM_025225.3:c.1371_1373del MANE Select	NP_079501.2:p.Phe457del