Canonical Allele Identifier: CA6289627

Gene: APOC3

Linked Data

• dbSNP Id: rs374842256
• ExAC: 11:116701383 C / T
• gnomAD v2: 11-116701383-C-T
• gnomAD v3: 11-116830667-C-T
• gnomAD v4: 11-116830667-C-T
• MyVariant Identifiers: chr11:g.116701383C>T (hg19) ; chr11:g.116830667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116830667C>T , CM000673.2:g.116830667C>T	GRCh38
NC_000011.9:g.116701383C>T , CM000673.1:g.116701383C>T	GRCh37
NC_000011.8:g.116206593C>T	NCBI36
NG_008949.1:g.5760C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000227667.8:c.55+30C>T MANE Select	ENSP00000227667.2:n.55+30C>T
ENST00000227667.7:c.55+30C>T	ENSP00000227667.2:n.55+30C>T
ENST00000375345.3:c.109+30C>T	ENSP00000364494.1:n.109+30C>T
ENST00000433777.5:c.55+30C>T	ENSP00000410614.1:n.55+30C>T
ENST00000470144.1:n.87+30C>T
ENST00000630701.1:c.109+30C>T	ENSP00000486182.1:n.109+30C>T
NM_000040.1:c.55+30C>T	NP_000031.1:n.55+30C>T
NM_000040.2:c.55+30C>T	NP_000031.1:n.55+30C>T
NM_000040.3:c.55+30C>T MANE Select	NP_000031.1:n.55+30C>T