Canonical Allele Identifier: CA1364458
Gene: IL24 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.206901560T>C
GRCh38 chr1:g.206901560_206901561delinsCA
GRCh37 chr1:g.207074905T>C
GRCh37 chr1:g.207074905_207074906delinsCA
Revel Score:
ENST00000391929 0.102
ENST00000294984 (MANE Select) 0.102
gnomAD v2:
1:207074905 T / C
gnomAD v3:
1:206901560 T / C
gnomAD v4:
chr1-206901560-T-C
Joint Max Group AF 0.47489595 (MID)
Genomes Max Group AF 0.46275037 (NFE)
Exomes Max Group AF 0.47366333 (MID)
ClinVar RCV:
RCV003489293
ClinVar Variation:
2688384
dbSNP:
1150258
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206901560T>C , CM000663.2:g.206901560T>C GRCh38
NC_000001.10:g.207074905T>C , CM000663.1:g.207074905T>C GRCh37
NC_000001.9:g.205141528T>C NCBI36
NG_029565.1:g.9118T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000294984.7:c.370T>C MANE Select ENSP00000294984.2:p.Tyr124His
ENST00000294984.6:c.370T>C ENSP00000294984.2:p.Tyr124His
ENST00000367093.3:c.307-438T>C ENSP00000356060.3:n.307-438T>C
ENST00000367095.7:c.*18T>C ENSP00000356062.3:n.*18T>C
ENST00000391929.7:c.373T>C ENSP00000375795.3:p.Tyr125His
ENST00000480741.1:c.108-438T>C ENSP00000418933.1:n.108-438T>C
ENST00000491169.1:n.281T>C
ENST00000611909.4:c.108-438T>C ENSP00000484900.1:n.108-438T>C
NM_001185156.1:c.373T>C NP_001172085.1:p.Tyr125His
NM_001185157.1:c.307-438T>C NP_001172086.1:n.307-438T>C
NM_001185158.1:c.108-438T>C NP_001172087.1:n.108-438T>C
NM_006850.3:c.370T>C MANE Select NP_006841.1:p.Tyr124His
XM_011509101.1:c.289T>C XP_011507403.1:p.Tyr97His
XM_011509101.2:c.289T>C XP_011507403.1:p.Tyr97His
XM_017000121.1:c.289T>C XP_016855610.1:p.Tyr97His
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