Canonical Allele Identifier: CA6060020
Gene: SLC22A8 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.63014899A>C
GRCh37 chr11:g.62782371A>C
Revel Score:
ENST00000336232 (MANE Select) 0.076
ENST00000540631 0.076
ENST00000311438 0.076
ENST00000430500 0.076
gnomAD v2:
11:62782371 A / C
gnomAD v3:
11:63014899 A / C
gnomAD v4:
chr11-63014899-A-C
Joint Max Group AF 0.0000112 (NFE)
Exomes Max Group AF 0.00001189 (NFE)
ClinVar RCV:
RCV004088531
ClinVar Variation:
2223725
dbSNP:
771649606
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.63014899A>C , CM000673.2:g.63014899A>C GRCh38
NC_000011.9:g.62782371A>C , CM000673.1:g.62782371A>C GRCh37
NC_000011.8:g.62538947A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.60T>G MANE Select ENSP00000337335.2:p.His20Gln
ENST00000311438.12:c.60T>G ENSP00000311463.8:p.His20Gln
ENST00000336232.6:c.60T>G ENSP00000337335.2:p.His20Gln
ENST00000430500.6:c.60T>G ENSP00000398548.2:p.His20Gln
ENST00000535878.5:c.-37+830T>G ENSP00000443368.1:n.-37+830T>G
ENST00000544707.1:n.196T>G
ENST00000545207.5:c.-25-189T>G ENSP00000441658.1:n.-25-189T>G
NM_001184732.1:c.60T>G NP_001171661.1:p.His20Gln
NM_001184733.1:c.-25-189T>G NP_001171662.1:n.-25-189T>G
NM_001184736.1:c.-37+830T>G NP_001171665.1:n.-37+830T>G
NM_004254.3:c.60T>G NP_004245.2:p.His20Gln
NM_004254.4:c.60T>G MANE Select NP_004245.2:p.His20Gln
NM_001184732.2:c.60T>G NP_001171661.1:p.His20Gln
NM_001184733.2:c.-25-189T>G NP_001171662.1:n.-25-189T>G
NM_001184736.2:c.-37+830T>G NP_001171665.1:n.-37+830T>G
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