Canonical Allele Identifier: CA10277937

Gene: PNPLA3

Linked Data

• dbSNP Id: rs747834895
• ExAC: 22:44324782 T / C
• gnomAD v2: 22-44324782-T-C
• gnomAD v3: 22-43928902-T-C
• gnomAD v4: 22-43928902-T-C
• MyVariant Identifiers: chr22:g.44324782T>C (hg19) ; chr22:g.43928902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928902T>C , CM000684.2:g.43928902T>C	GRCh38
NC_000022.10:g.44324782T>C , CM000684.1:g.44324782T>C	GRCh37
NC_000022.9:g.42656115T>C	NCBI36
NG_008631.1:g.10164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+13T>C MANE Select	ENSP00000216180.3:n.486+13T>C
ENST00000216180.7:c.486+13T>C	ENSP00000216180.3:n.486+13T>C
ENST00000406117.6:c.*118+13T>C	ENSP00000384668.2:n.*118+13T>C
ENST00000423180.2:c.474+13T>C	ENSP00000397987.2:n.474+13T>C
ENST00000478713.1:n.520+13T>C
NM_025225.2:c.486+13T>C	NP_079501.2:n.486+13T>C
NM_025225.3:c.486+13T>C MANE Select	NP_079501.2:n.486+13T>C