Canonical Allele Identifier: CA1563898

Gene: OTOF

Linked Data

• ClinVar Variation Id: 805105
• ClinVar RCV Id: RCV000992473 ; RCV003984851
• dbSNP Id: rs767282723
• ExAC: 2:26700125 C / T
• gnomAD v2: 2-26700125-C-T
• gnomAD v3: 2-26477257-C-T
• gnomAD v4: 2-26477257-C-T
• COSMIC: COSM2912726 ; COSM2912727 ; COSM2912728
• MyVariant Identifiers: chr2:g.26700125C>T (hg19) ; chr2:g.26477257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477257C>T , CM000664.2:g.26477257C>T	GRCh38
NC_000002.11:g.26700125C>T , CM000664.1:g.26700125C>T	GRCh37
NC_000002.10:g.26553629C>T	NCBI36
NG_009937.1:g.86442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2438G>A MANE Select	ENSP00000272371.2:p.Arg813Gln
ENST00000339598.8:c.197G>A MANE Plus Clinical	ENSP00000344521.3:p.Arg66Gln
ENST00000402415.8:c.197G>A	ENSP00000383906.4:p.Arg66Gln
ENST00000272371.6:c.2438G>A	ENSP00000272371.2:p.Arg813Gln
ENST00000338581.10:c.197G>A	ENSP00000345137.6:p.Arg66Gln
ENST00000339598.7:c.197G>A	ENSP00000344521.3:p.Arg66Gln
ENST00000402415.7:c.368G>A	ENSP00000383906.3:p.Arg123Gln
ENST00000403946.7:c.2438G>A	ENSP00000385255.3:p.Arg813Gln
NM_001287489.1:c.2438G>A	NP_001274418.1:p.Arg813Gln
NM_004802.3:c.197G>A	NP_004793.2:p.Arg66Gln
NM_194248.2:c.2438G>A	NP_919224.1:p.Arg813Gln
NM_194322.2:c.368G>A	NP_919303.1:p.Arg123Gln
NM_194323.2:c.197G>A	NP_919304.1:p.Arg66Gln
XM_005264644.2:c.2483G>A	XP_005264701.1:p.Arg828Gln
XM_011533185.1:c.2483G>A	XP_011531487.1:p.Arg828Gln
XM_017005338.1:c.2438G>A	XP_016860827.1:p.Arg813Gln
NM_001287489.2:c.2438G>A	NP_001274418.1:p.Arg813Gln
NM_004802.4:c.197G>A	NP_004793.2:p.Arg66Gln
NM_194248.3:c.2438G>A MANE Select	NP_919224.1:p.Arg813Gln
NM_194322.3:c.368G>A	NP_919303.1:p.Arg123Gln
NM_194323.3:c.197G>A MANE Plus Clinical	NP_919304.1:p.Arg66Gln