Canonical Allele Identifier: CA2236546

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs201379765
• ExAC: 3:8809203 C / A
• gnomAD v2: 3-8809203-C-A
• gnomAD v3: 3-8767517-C-A
• gnomAD v4: 3-8767517-C-A
• MyVariant Identifiers: chr3:g.8809203C>A (hg19) ; chr3:g.8767517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8767517C>A , CM000665.2:g.8767517C>A	GRCh38
NC_000003.11:g.8809203C>A , CM000665.1:g.8809203C>A	GRCh37
NC_000003.10:g.8784203C>A	NCBI36
NG_008797.2:g.38708C>A , LRG_329:g.38708C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316793.8:c.671G>T (OXTR) MANE Select	ENSP00000324270.2:p.Ser224Ile
ENST00000316793.7:c.671G>T (OXTR)	ENSP00000324270.2:p.Ser224Ile
ENST00000472766.1:n.156-9960C>A (CAV3)
NM_000916.3:c.671G>T (OXTR)	NP_000907.2:p.Ser224Ile
XM_011533762.1:c.671G>T (OXTR)	XP_011532064.1:p.Ser224Ile
XM_011533763.1:c.671G>T (OXTR)	XP_011532065.1:p.Ser224Ile
NM_001354653.1:c.671G>T (OXTR)	NP_001341582.1:p.Ser224Ile
NM_001354654.1:c.671G>T (OXTR)	NP_001341583.1:p.Ser224Ile
NM_001354655.1:c.671G>T (OXTR)	NP_001341584.1:p.Ser224Ile
NM_001354656.1:c.671G>T (OXTR)	NP_001341585.1:p.Ser224Ile
NM_001354656.2:c.671G>T (OXTR)	NP_001341585.1:p.Ser224Ile
NM_000916.4:c.671G>T (OXTR) MANE Select	NP_000907.2:p.Ser224Ile
NM_001354653.2:c.671G>T (OXTR)	NP_001341582.1:p.Ser224Ile
NM_001354654.2:c.671G>T (OXTR)	NP_001341583.1:p.Ser224Ile
NM_001354655.2:c.671G>T (OXTR)	NP_001341584.1:p.Ser224Ile
NM_001354656.3:c.671G>T (OXTR)	NP_001341585.1:p.Ser224Ile