Canonical Allele Identifier: CA44402287

Gene: OTOF

Linked Data

• dbSNP Id: rs930408087
• gnomAD v3: 2-26483479-A-C
• gnomAD v4: 2-26483479-A-C
• MyVariant Identifiers: chr2:g.26706347A>C (hg19) ; chr2:g.26483479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26483479A>C , CM000664.2:g.26483479A>C	GRCh38
NC_000002.11:g.26706347A>C , CM000664.1:g.26706347A>C	GRCh37
NC_000002.10:g.26559851A>C	NCBI36
NG_009937.1:g.80220T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1375T>G MANE Select	ENSP00000272371.2:p.Phe459Val
ENST00000272371.6:c.1375T>G	ENSP00000272371.2:p.Phe459Val
ENST00000403946.7:c.1375T>G	ENSP00000385255.3:p.Phe459Val
NM_001287489.1:c.1375T>G	NP_001274418.1:p.Phe459Val
NM_194248.2:c.1375T>G	NP_919224.1:p.Phe459Val
XM_005264644.2:c.1420T>G	XP_005264701.1:p.Phe474Val
XM_011533185.1:c.1420T>G	XP_011531487.1:p.Phe474Val
XM_017005338.1:c.1375T>G	XP_016860827.1:p.Phe459Val
NM_001287489.2:c.1375T>G	NP_001274418.1:p.Phe459Val
NM_194248.3:c.1375T>G MANE Select	NP_919224.1:p.Phe459Val