Canonical Allele Identifier: CA15199621
Gene: MGAT4A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.98623468C>T
GRCh37 chr2:g.99239931C>T
gnomAD v2:
2:99239931 C / T
gnomAD v3:
2:98623468 C / T
gnomAD v4:
chr2-98623468-C-T
Joint Max Group AF 0.24531485 (AFR)
Genomes Max Group AF 0.24410895 (AFR)
Exomes Max Group AF 0.24383338 (AFR)
dbSNP:
12618769
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98623468C>T , CM000664.2:g.98623468C>T GRCh38
NC_000002.11:g.99239931C>T , CM000664.1:g.99239931C>T GRCh37
NC_000002.10:g.98606363C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393487.6:c.*2098G>A MANE Select ENSP00000377127.1:n.*2098G>A
ENST00000264968.7:c.*2098G>A ENSP00000264968.2:n.*2098G>A
ENST00000393487.5:c.*2098G>A ENSP00000377127.1:n.*2098G>A
ENST00000414521.6:c.1198-1963G>A ENSP00000404889.2:n.1198-1963G>A
NM_001160154.1:c.1198-1963G>A NP_001153626.1:n.1198-1963G>A
NM_012214.2:c.*2098G>A NP_036346.1:n.*2098G>A
NM_012214.3:c.*2098G>A MANE Select NP_036346.1:n.*2098G>A
NM_001160154.2:c.1198-1963G>A NP_001153626.1:n.1198-1963G>A
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