Canonical Allele Identifier: CA124197

Gene: IL13

Linked Data

• ClinVar Variation Id: 14673
• ClinVar RCV Id: RCV002509161 ; RCV003974831
• dbSNP Id: rs20541
• ExAC: 5:131995964 A / G
• gnomAD v2: 5-131995964-A-G
• gnomAD v3: 5-132660272-A-G
• gnomAD v4: 5-132660272-A-G
• MyVariant Identifiers: chr5:g.131995964A>G (hg19) ; chr5:g.132660272A>G (hg38)
• PubMed: PMID:10699178 ; PMID:12928861 ; PMID:15356556 ; PMID:15483090 ; PMID:15711639

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132660272A>G , CM000667.2:g.132660272A>G	GRCh38
NC_000005.9:g.131995964A>G , CM000667.1:g.131995964A>G	GRCh37
NC_000005.8:g.132023863A>G	NCBI36
NG_012090.1:g.7100A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304506.7:c.431A>G MANE Select	ENSP00000304915.3:p.Gln144Arg
ENST00000459878.5:n.435A>G
ENST00000462480.1:n.1502A>G
ENST00000468334.5:n.804A>G
ENST00000487267.5:n.602A>G
ENST00000617259.2:c.389A>G	ENSP00000479835.1:p.Gln130Arg
NM_002188.2:c.431A>G	NP_002179.2:p.Gln144Arg
NM_001354991.1:c.236A>G	NP_001341920.1:p.Gln79Arg
NM_001354992.1:c.236A>G	NP_001341921.1:p.Gln79Arg
NM_001354993.1:c.236A>G	NP_001341922.1:p.Gln79Arg
NM_002188.3:c.431A>G MANE Select	NP_002179.2:p.Gln144Arg
NM_001354991.2:c.236A>G	NP_001341920.1:p.Gln79Arg
NM_001354992.2:c.236A>G	NP_001341921.1:p.Gln79Arg
NM_001354993.2:c.236A>G	NP_001341922.1:p.Gln79Arg