Canonical Allele Identifier: CA324877001

Gene: PNPLA3

Linked Data

• dbSNP Id: rs761264241
• gnomAD v3: 22-43930062-C-T
• gnomAD v4: 22-43930062-C-T
• MyVariant Identifiers: chr22:g.44325942C>T (hg19) ; chr22:g.43930062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43930062C>T , CM000684.2:g.43930062C>T	GRCh38
NC_000022.10:g.44325942C>T , CM000684.1:g.44325942C>T	GRCh37
NC_000022.9:g.42657275C>T	NCBI36
NG_008631.1:g.11324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+1173C>T MANE Select	ENSP00000216180.3:n.486+1173C>T
ENST00000216180.7:c.486+1173C>T	ENSP00000216180.3:n.486+1173C>T
ENST00000406117.6:c.*118+1173C>T	ENSP00000384668.2:n.*118+1173C>T
ENST00000423180.2:c.474+1173C>T	ENSP00000397987.2:n.474+1173C>T
ENST00000478713.1:n.520+1173C>T
NM_025225.2:c.486+1173C>T	NP_079501.2:n.486+1173C>T
NM_025225.3:c.486+1173C>T MANE Select	NP_079501.2:n.486+1173C>T