Canonical Allele Identifier: CA11396533
Gene: OXTR HGNC NCBI
CAV3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.8769477A>G
GRCh37 chr3:g.8811163A>G
gnomAD v2:
3:8811163 A / G
gnomAD v3:
3:8769477 A / G
gnomAD v4:
chr3-8769477-A-G
Joint Max Group AF 0.63625879 (EAS)
Genomes Max Group AF 0.63625879 (EAS)
Exomes Max Group AF 0.36650111 (NFE)
dbSNP:
968389
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8769477A>G , CM000665.2:g.8769477A>G GRCh38
NC_000003.11:g.8811163A>G , CM000665.1:g.8811163A>G GRCh37
NC_000003.10:g.8786163A>G NCBI36
NG_008797.2:g.40668A>G , LRG_329:g.40668A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316793.8:c.-485T>C (OXTR) MANE Select ENSP00000324270.2:n.-485T>C
ENST00000316793.7:c.-485T>C (OXTR) ENSP00000324270.2:n.-485T>C
ENST00000431493.1:c.-462T>C (OXTR) ENSP00000414828.1:n.-462T>C
ENST00000472766.1:n.156-8000A>G (CAV3)
ENST00000474615.1:n.137T>C (OXTR)
NM_000916.3:c.-485T>C (OXTR) NP_000907.2:n.-485T>C
XM_011533762.1:c.-462T>C (OXTR) XP_011532064.1:n.-462T>C
XM_011533763.1:c.-238-886T>C (OXTR) XP_011532065.1:n.-238-886T>C
NM_001354653.1:c.-405T>C (OXTR) NP_001341582.1:n.-405T>C
NM_001354654.1:c.-462T>C (OXTR) NP_001341583.1:n.-462T>C
NM_000916.4:c.-485T>C (OXTR) MANE Select NP_000907.2:n.-485T>C
NM_001354653.2:c.-405T>C (OXTR) NP_001341582.1:n.-405T>C
NM_001354654.2:c.-462T>C (OXTR) NP_001341583.1:n.-462T>C
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