Canonical Allele Identifier: CA7113947
Gene: IL25 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23375852T>C
GRCh37 chr14:g.23845061T>C
Revel Score:
ENST00000397242 (MANE Select) 0.206
ENST00000329715 0.206
gnomAD v2:
14:23845061 T / C
gnomAD v3:
14:23375852 T / C
gnomAD v4:
chr14-23375852-T-C
Joint Max Group AF 0.00057853 (AFR)
Genomes Max Group AF 0.00056211 (AFR)
Exomes Max Group AF 0.00046904 (AFR)
ClinVar RCV:
RCV004079636
ClinVar Variation:
2211994
dbSNP:
149802556
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23375852T>C , CM000676.2:g.23375852T>C GRCh38
NC_000014.8:g.23845061T>C , CM000676.1:g.23845061T>C GRCh37
NC_000014.7:g.22914901T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000397242.3:c.458T>C MANE Select ENSP00000380417.2:p.Val153Ala
ENST00000329715.2:c.506T>C ENSP00000328111.2:p.Val169Ala
ENST00000397242.2:c.458T>C ENSP00000380417.2:p.Val153Ala
NM_022789.3:c.506T>C NP_073626.1:p.Val169Ala
NM_172314.1:c.458T>C NP_758525.1:p.Val153Ala
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