Canonical Allele Identifier: CA69856258
Gene: CAV3 HGNC NCBI
OXTR HGNC NCBI

Linked Data

dbSNP Id: rs146907714
gnomAD v2: 3-8813139-T-C
gnomAD v3: 3-8771453-T-C
gnomAD v4: 3-8771453-T-C
MyVariant Identifiers: chr3:g.8813139T>C (hg19) chr3:g.8771453T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8771453T>C , CM000665.2:g.8771453T>C GRCh38
NC_000003.11:g.8813139T>C , CM000665.1:g.8813139T>C GRCh37
NC_000003.10:g.8788139T>C NCBI36
NG_008797.2:g.42644T>C , LRG_329:g.42644T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472766.1:n.156-6024T>C (CAV3)
XM_011533763.1:c.-238-2862A>G (OXTR) XP_011532065.1:n.-238-2862A>G
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