Canonical Allele Identifier: CA12063747
Gene: IL13 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.132657117C>T
GRCh37 chr5:g.131992809C>T
gnomAD v2:
5:131992809 C / T
gnomAD v3:
5:132657117 C / T
gnomAD v4:
chr5-132657117-C-T
Joint Max Group AF 0.38873417 (AFR)
Genomes Max Group AF 0.38876455 (AFR)
Exomes Max Group AF 0.26992391 (AFR)
ClinVar RCV:
RCV000015784
ClinVar Variation:
14672
dbSNP:
1800925
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132657117C>T , CM000667.2:g.132657117C>T GRCh38
NC_000005.9:g.131992809C>T , CM000667.1:g.131992809C>T GRCh37
NC_000005.8:g.132020708C>T NCBI36
NG_012090.1:g.3945C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000459878.5:n.107+487C>T
ENST00000468334.5:n.420C>T
ENST00000487267.5:n.147C>T
NM_001354991.1:c.-93+487C>T NP_001341920.1:n.-93+487C>T
NM_001354992.1:c.-220C>T NP_001341921.1:n.-220C>T
NM_001354993.1:c.-149C>T NP_001341922.1:n.-149C>T
NM_001354991.2:c.-93+487C>T NP_001341920.1:n.-93+487C>T
NM_001354992.2:c.-220C>T NP_001341921.1:n.-220C>T
NM_001354993.2:c.-149C>T NP_001341922.1:n.-149C>T
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