Canonical Allele Identifier: CA950115207

Gene: MGAT4C

Linked Data

• dbSNP Id: rs1951229201
• gnomAD v3: 12-86751361-C-A
• gnomAD v4: 12-86751361-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.86751361C>A , CM000674.2:g.86751361C>A	GRCh38
NC_000012.11:g.87145138C>A , CM000674.1:g.87145138C>A	GRCh37
NC_000012.10:g.85669269C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000548651.6:c.-261-24120G>T	ENSP00000447253.1:n.-261-24120G>T
ENST00000621808.5:c.-381-24120G>T	ENSP00000478300.1:n.-381-24120G>T
ENST00000551921.2:n.240-24120G>T
ENST00000621808.4:c.-381-24120G>T	ENSP00000478300.1:n.-381-24120G>T
NM_013244.3:c.-229+87305G>T	NP_037376.2:n.-229+87305G>T
NM_001351285.1:c.-326-24120G>T	NP_001338214.1:n.-326-24120G>T
NM_001351286.1:c.-261-24120G>T	NP_001338215.1:n.-261-24120G>T
NM_013244.4:c.-229+87305G>T	NP_037376.2:n.-229+87305G>T
NM_001351285.2:c.-326-24120G>T	NP_001338214.1:n.-326-24120G>T
NM_001351286.2:c.-261-24120G>T	NP_001338215.1:n.-261-24120G>T
NM_013244.5:c.-229+87305G>T	NP_037376.2:n.-229+87305G>T