Canonical Allele Identifier: CA142766

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48180
• ClinVar RCV Id: RCV000041472 ; RCV000765661 ; RCV001762126
• dbSNP Id: rs111033351
• ExAC: 2:26703073 A / G
• gnomAD v2: 2-26703073-A-G
• gnomAD v3: 2-26480205-A-G
• gnomAD v4: 2-26480205-A-G
• MyVariant Identifiers: chr2:g.26703073A>G (hg19) ; chr2:g.26480205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480205A>G , CM000664.2:g.26480205A>G	GRCh38
NC_000002.11:g.26703073A>G , CM000664.1:g.26703073A>G	GRCh37
NC_000002.10:g.26556577A>G	NCBI36
NG_009937.1:g.83494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1910T>C MANE Select	ENSP00000272371.2:p.Ile637Thr
ENST00000272371.6:c.1910T>C	ENSP00000272371.2:p.Ile637Thr
ENST00000403946.7:c.1910T>C	ENSP00000385255.3:p.Ile637Thr
NM_001287489.1:c.1910T>C	NP_001274418.1:p.Ile637Thr
NM_194248.2:c.1910T>C	NP_919224.1:p.Ile637Thr
XM_005264644.2:c.1955T>C	XP_005264701.1:p.Ile652Thr
XM_011533185.1:c.1955T>C	XP_011531487.1:p.Ile652Thr
XM_017005338.1:c.1910T>C	XP_016860827.1:p.Ile637Thr
NM_001287489.2:c.1910T>C	NP_001274418.1:p.Ile637Thr
NM_194248.3:c.1910T>C MANE Select	NP_919224.1:p.Ile637Thr