Canonical Allele Identifier: CA351664830

Gene: OXTR CAV3

Linked Data

• gnomAD v4: 3-8767445-G-T
• COSMIC: COSM4888412
• MyVariant Identifiers: chr3:g.8809131G>T (hg19) ; chr3:g.8767445G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8767445G>T , CM000665.2:g.8767445G>T	GRCh38
NC_000003.11:g.8809131G>T , CM000665.1:g.8809131G>T	GRCh37
NC_000003.10:g.8784131G>T	NCBI36
NG_008797.2:g.38636G>T , LRG_329:g.38636G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000316793.8:c.743C>A (OXTR) MANE Select	ENSP00000324270.2:p.Ala248Glu
ENST00000316793.7:c.743C>A (OXTR)	ENSP00000324270.2:p.Ala248Glu
ENST00000472766.1:n.156-10032G>T (CAV3)
NM_000916.3:c.743C>A (OXTR)	NP_000907.2:p.Ala248Glu
XM_011533762.1:c.743C>A (OXTR)	XP_011532064.1:p.Ala248Glu
XM_011533763.1:c.743C>A (OXTR)	XP_011532065.1:p.Ala248Glu
NM_001354653.1:c.743C>A (OXTR)	NP_001341582.1:p.Ala248Glu
NM_001354654.1:c.743C>A (OXTR)	NP_001341583.1:p.Ala248Glu
NM_001354655.1:c.743C>A (OXTR)	NP_001341584.1:p.Ala248Glu
NM_001354656.1:c.743C>A (OXTR)	NP_001341585.1:p.Ala248Glu
NM_001354656.2:c.743C>A (OXTR)	NP_001341585.1:p.Ala248Glu
NM_000916.4:c.743C>A (OXTR) MANE Select	NP_000907.2:p.Ala248Glu
NM_001354653.2:c.743C>A (OXTR)	NP_001341582.1:p.Ala248Glu
NM_001354654.2:c.743C>A (OXTR)	NP_001341583.1:p.Ala248Glu
NM_001354655.2:c.743C>A (OXTR)	NP_001341584.1:p.Ala248Glu
NM_001354656.3:c.743C>A (OXTR)	NP_001341585.1:p.Ala248Glu