Canonical Allele Identifier: CA10204695
Gene: HMOX1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.35386870C>T
GRCh37 chr22:g.35782863C>T
gnomAD v2:
22:35782863 C / T
gnomAD v3:
22:35386870 C / T
gnomAD v4:
chr22-35386870-C-T
Joint Max Group AF 0.00286158 (SAS)
Genomes Max Group AF 0.00224361 (SAS)
Exomes Max Group AF 0.00283401 (SAS)
ClinVar RCV:
RCV000591468
RCV000957470
ClinVar Variation:
498177
dbSNP:
150515195
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.35386870C>T , CM000684.2:g.35386870C>T GRCh38
NC_000022.10:g.35782863C>T , CM000684.1:g.35782863C>T GRCh37
NC_000022.9:g.34112863C>T NCBI36
NG_023030.1:g.10804C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216117.9:c.330C>T MANE Select ENSP00000216117.8:p.Ala110=
ENST00000481190.2:c.*235C>T ENSP00000503987.1:n.*235C>T
ENST00000677931.1:c.145-2994C>T ENSP00000502849.1:n.145-2994C>T
ENST00000678411.1:c.43-106C>T ENSP00000503526.1:n.43-106C>T
ENST00000679074.1:c.330C>T ENSP00000503459.1:p.Ala110=
ENST00000216117.8:c.330C>T ENSP00000216117.8:p.Ala110=
ENST00000412893.5:c.330C>T ENSP00000413316.1:p.Ala110=
ENST00000481190.1:n.544C>T
NM_002133.2:c.330C>T NP_002124.1:p.Ala110=
NM_002133.3:c.330C>T MANE Select NP_002124.1:p.Ala110=
Search 100 bp 5'
Search 100 bp 3'