Canonical Allele Identifier: CA1344416791

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs1708704246
• gnomAD v3: 3-8768988-C-A
• gnomAD v4: 3-8768988-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8768988C>A , CM000665.2:g.8768988C>A	GRCh38
NC_000003.11:g.8810674C>A , CM000665.1:g.8810674C>A	GRCh37
NC_000003.10:g.8785674C>A	NCBI36
NG_008797.2:g.40179C>A , LRG_329:g.40179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316793.8:c.-239+243G>T (OXTR) MANE Select	ENSP00000324270.2:n.-239+243G>T
ENST00000316793.7:c.-239+243G>T (OXTR)	ENSP00000324270.2:n.-239+243G>T
ENST00000431493.1:c.-239+266G>T (OXTR)	ENSP00000414828.1:n.-239+266G>T
ENST00000472766.1:n.156-8489C>A (CAV3)
ENST00000474615.1:n.383+243G>T (OXTR)
NM_000916.3:c.-239+243G>T (OXTR)	NP_000907.2:n.-239+243G>T
XM_011533762.1:c.-239+266G>T (OXTR)	XP_011532064.1:n.-239+266G>T
XM_011533763.1:c.-238-397G>T (OXTR)	XP_011532065.1:n.-238-397G>T
NM_001354653.1:c.-239+243G>T (OXTR)	NP_001341582.1:n.-239+243G>T
NM_001354654.1:c.-239+266G>T (OXTR)	NP_001341583.1:n.-239+266G>T
NM_001354655.1:c.-239+60G>T (OXTR)	NP_001341584.1:n.-239+60G>T
NM_000916.4:c.-239+243G>T (OXTR) MANE Select	NP_000907.2:n.-239+243G>T
NM_001354653.2:c.-239+243G>T (OXTR)	NP_001341582.1:n.-239+243G>T
NM_001354654.2:c.-239+266G>T (OXTR)	NP_001341583.1:n.-239+266G>T
NM_001354655.2:c.-239+60G>T (OXTR)	NP_001341584.1:n.-239+60G>T