Canonical Allele Identifier: CA692989803

Gene: MGAT4C

Linked Data

• dbSNP Id: rs1433204534
• gnomAD v3: 12-86751516-C-CT
• gnomAD v4: 12-86751516-C-CT
• MyVariant Identifiers: chr12:g.87145293_87145294insT (hg19) ; chr12:g.86751516_86751517insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.86751517dup , CM000674.2:g.86751517dup	GRCh38
NC_000012.11:g.87145294dup , CM000674.1:g.87145294dup	GRCh37
NC_000012.10:g.85669425dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548651.6:c.-261-24276dup	ENSP00000447253.1:n.-261-24276dup
ENST00000621808.5:c.-381-24276dup	ENSP00000478300.1:n.-381-24276dup
ENST00000551921.2:n.240-24276dup
ENST00000621808.4:c.-381-24276dup	ENSP00000478300.1:n.-381-24276dup
NM_013244.3:c.-229+87149dup	NP_037376.2:n.-229+87149dup
NM_001351285.1:c.-326-24276dup	NP_001338214.1:n.-326-24276dup
NM_001351286.1:c.-261-24276dup	NP_001338215.1:n.-261-24276dup
NM_013244.4:c.-229+87149dup	NP_037376.2:n.-229+87149dup
NM_001351285.2:c.-326-24276dup	NP_001338214.1:n.-326-24276dup
NM_001351286.2:c.-261-24276dup	NP_001338215.1:n.-261-24276dup
NM_013244.5:c.-229+87149dup	NP_037376.2:n.-229+87149dup