Canonical Allele Identifier: CA911557729

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs1423616815
• gnomAD v3: 3-8768983-A-G
• gnomAD v4: 3-8768983-A-G
• MyVariant Identifiers: chr3:g.8810669A>G (hg19) ; chr3:g.8768983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8768983A>G , CM000665.2:g.8768983A>G	GRCh38
NC_000003.11:g.8810669A>G , CM000665.1:g.8810669A>G	GRCh37
NC_000003.10:g.8785669A>G	NCBI36
NG_008797.2:g.40174A>G , LRG_329:g.40174A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316793.8:c.-239+248T>C (OXTR) MANE Select	ENSP00000324270.2:n.-239+248T>C
ENST00000316793.7:c.-239+248T>C (OXTR)	ENSP00000324270.2:n.-239+248T>C
ENST00000431493.1:c.-239+271T>C (OXTR)	ENSP00000414828.1:n.-239+271T>C
ENST00000472766.1:n.156-8494A>G (CAV3)
ENST00000474615.1:n.383+248T>C (OXTR)
NM_000916.3:c.-239+248T>C (OXTR)	NP_000907.2:n.-239+248T>C
XM_011533762.1:c.-239+271T>C (OXTR)	XP_011532064.1:n.-239+271T>C
XM_011533763.1:c.-238-392T>C (OXTR)	XP_011532065.1:n.-238-392T>C
NM_001354653.1:c.-239+248T>C (OXTR)	NP_001341582.1:n.-239+248T>C
NM_001354654.1:c.-239+271T>C (OXTR)	NP_001341583.1:n.-239+271T>C
NM_001354655.1:c.-239+65T>C (OXTR)	NP_001341584.1:n.-239+65T>C
NM_000916.4:c.-239+248T>C (OXTR) MANE Select	NP_000907.2:n.-239+248T>C
NM_001354653.2:c.-239+248T>C (OXTR)	NP_001341582.1:n.-239+248T>C
NM_001354654.2:c.-239+271T>C (OXTR)	NP_001341583.1:n.-239+271T>C
NM_001354655.2:c.-239+65T>C (OXTR)	NP_001341584.1:n.-239+65T>C