Canonical Allele Identifier: CA69856298
Gene: CAV3 HGNC NCBI
OXTR HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.8771545G>C
GRCh37 chr3:g.8813231G>C
gnomAD v2:
3:8813231 G / C
gnomAD v3:
3:8771545 G / C
gnomAD v4:
chr3-8771545-G-C
Joint Max Group AF 0.10339413 (EAS)
Genomes Max Group AF 0.10339413 (EAS)
dbSNP:
1488467
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8771545G>C , CM000665.2:g.8771545G>C GRCh38
NC_000003.11:g.8813231G>C , CM000665.1:g.8813231G>C GRCh37
NC_000003.10:g.8788231G>C NCBI36
NG_008797.2:g.42736G>C , LRG_329:g.42736G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472766.1:n.156-5932G>C (CAV3)
XM_011533763.1:c.-238-2954C>G (OXTR) XP_011532065.1:n.-238-2954C>G
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