Canonical Allele Identifier: CA240739668

Gene: MGAT4C

Linked Data

• dbSNP Id: rs543586785
• gnomAD v3: 12-86751543-C-G
• gnomAD v4: 12-86751543-C-G
• MyVariant Identifiers: chr12:g.87145320C>G (hg19) ; chr12:g.86751543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.86751543C>G , CM000674.2:g.86751543C>G	GRCh38
NC_000012.11:g.87145320C>G , CM000674.1:g.87145320C>G	GRCh37
NC_000012.10:g.85669451C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548651.6:c.-261-24302G>C	ENSP00000447253.1:n.-261-24302G>C
ENST00000621808.5:c.-381-24302G>C	ENSP00000478300.1:n.-381-24302G>C
ENST00000551921.2:n.240-24302G>C
ENST00000621808.4:c.-381-24302G>C	ENSP00000478300.1:n.-381-24302G>C
NM_013244.3:c.-229+87123G>C	NP_037376.2:n.-229+87123G>C
NM_001351285.1:c.-326-24302G>C	NP_001338214.1:n.-326-24302G>C
NM_001351286.1:c.-261-24302G>C	NP_001338215.1:n.-261-24302G>C
NM_013244.4:c.-229+87123G>C	NP_037376.2:n.-229+87123G>C
NM_001351285.2:c.-326-24302G>C	NP_001338214.1:n.-326-24302G>C
NM_001351286.2:c.-261-24302G>C	NP_001338215.1:n.-261-24302G>C
NM_013244.5:c.-229+87123G>C	NP_037376.2:n.-229+87123G>C