Canonical Allele Identifier: CA10204586
Gene: HMOX1 HGNC NCBI
COSMIC:
COSM4988363 (not active)
MyVariant.info:
GRCh38 chr22:g.35381192G>C
GRCh37 chr22:g.35777185G>C
Revel Score:
ENST00000412893 0.114
ENST00000216117 (MANE Select) 0.114
gnomAD v2:
22:35777185 G / C
gnomAD v3:
22:35381192 G / C
gnomAD v4:
chr22-35381192-G-C
Joint Max Group AF 0.06827451 (EAS)
Genomes Max Group AF 0.05273039 (EAS)
Exomes Max Group AF 0.06983778 (EAS)
ClinVar Allele:
1159120
ClinVar RCV:
RCV001518876
ClinVar Variation:
1168542
dbSNP:
2071747
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.35381192G>C , CM000684.2:g.35381192G>C GRCh38
NC_000022.10:g.35777185G>C , CM000684.1:g.35777185G>C GRCh37
NC_000022.9:g.34107185G>C NCBI36
NG_023030.1:g.5126G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216117.9:c.19G>C MANE Select ENSP00000216117.8:p.Asp7His
ENST00000481190.2:c.19G>C ENSP00000503987.1:p.Asp7His
ENST00000677931.1:c.19G>C ENSP00000502849.1:p.Asp7His
ENST00000679074.1:c.19G>C ENSP00000503459.1:p.Asp7His
ENST00000216117.8:c.19G>C ENSP00000216117.8:p.Asp7His
ENST00000412893.5:c.19G>C ENSP00000413316.1:p.Asp7His
ENST00000481190.1:n.100G>C
NM_002133.2:c.19G>C NP_002124.1:p.Asp7His
NM_002133.3:c.19G>C MANE Select NP_002124.1:p.Asp7His
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