Canonical Allele Identifier: CA11565612
Gene: OXTR HGNC NCBI
CAV3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.8752859G>T
GRCh37 chr3:g.8794545G>T
gnomAD v2:
3:8794545 G / T
gnomAD v3:
3:8752859 G / T
gnomAD v4:
chr3-8752859-G-T
Joint Max Group AF 0.63358181 (AFR)
Genomes Max Group AF 0.63070068 (AFR)
Exomes Max Group AF 0.63301938 (AFR)
dbSNP:
1042778
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8752859G>T , CM000665.2:g.8752859G>T GRCh38
NC_000003.11:g.8794545G>T , CM000665.1:g.8794545G>T GRCh37
NC_000003.10:g.8769545G>T NCBI36
NG_008797.2:g.24050G>T , LRG_329:g.24050G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316793.8:c.*118C>A (OXTR) MANE Select ENSP00000324270.2:n.*118C>A
ENST00000316793.7:c.*118C>A (OXTR) ENSP00000324270.2:n.*118C>A
ENST00000472766.1:n.155+18869G>T (CAV3)
NM_000916.3:c.*118C>A (OXTR) NP_000907.2:n.*118C>A
XM_011533762.1:c.*118C>A (OXTR) XP_011532064.1:n.*118C>A
XM_011533763.1:c.*118C>A (OXTR) XP_011532065.1:n.*118C>A
NM_001354653.1:c.*118C>A (OXTR) NP_001341582.1:n.*118C>A
NM_001354654.1:c.*118C>A (OXTR) NP_001341583.1:n.*118C>A
NM_001354655.1:c.*118C>A (OXTR) NP_001341584.1:n.*118C>A
NM_001354656.1:c.*118C>A (OXTR) NP_001341585.1:n.*118C>A
NM_001354656.2:c.*118C>A (OXTR) NP_001341585.1:n.*118C>A
NM_000916.4:c.*118C>A (OXTR) MANE Select NP_000907.2:n.*118C>A
NM_001354653.2:c.*118C>A (OXTR) NP_001341582.1:n.*118C>A
NM_001354654.2:c.*118C>A (OXTR) NP_001341583.1:n.*118C>A
NM_001354655.2:c.*118C>A (OXTR) NP_001341584.1:n.*118C>A
NM_001354656.3:c.*118C>A (OXTR) NP_001341585.1:n.*118C>A
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