Canonical Allele Identifier: CA15444187
Gene: SLC44A4 HGNC NCBI
EHMT2-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31878208T>C
GRCh37 chr6:g.31845985T>C
gnomAD v2:
6:31845985 T / C
gnomAD v3:
6:31878208 T / C
gnomAD v4:
chr6-31878208-T-C
Joint Max Group AF 0.9727756 (EAS)
Genomes Max Group AF 0.97269543 (EAS)
Exomes Max Group AF 0.83947855 (NFE)
dbSNP:
9267658
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31878208T>C , CM000668.2:g.31878208T>C GRCh38
NC_000006.11:g.31845985T>C , CM000668.1:g.31845985T>C GRCh37
NC_000006.10:g.31953964T>C NCBI36
NG_023058.1:g.5839A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229729.11:c.40+733A>G (SLC44A4) MANE Select ENSP00000229729.6:n.40+733A>G
ENST00000229729.10:c.40+733A>G (SLC44A4) ENSP00000229729.6:n.40+733A>G
ENST00000375562.8:c.40+733A>G (SLC44A4) ENSP00000364712.4:n.40+733A>G
ENST00000414427.1:c.27+733A>G (SLC44A4)
ENST00000462671.1:n.57+733A>G (SLC44A4)
ENST00000465707.5:n.57+733A>G (SLC44A4)
NM_001178044.1:c.40+733A>G (SLC44A4) NP_001171515.1:n.40+733A>G
NM_025257.2:c.40+733A>G (SLC44A4) NP_079533.2:n.40+733A>G
NM_025257.3:c.40+733A>G (SLC44A4) MANE Select NP_079533.2:n.40+733A>G
NM_001178044.2:c.40+733A>G (SLC44A4) NP_001171515.1:n.40+733A>G
NR_174947.1:n.271+130T>C (EHMT2-AS1)
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