Canonical Allele Identifier: CA10613397

Gene: OTOF

Linked Data

• ClinVar Variation Id: 335432
• ClinVar RCV Id: RCV000369158
• dbSNP Id: rs886055874
• COSMIC: COSM4093356 ; COSM4093357 ; COSM4093358
• MyVariant Identifiers: chr2:g.26684657T>C (hg19) ; chr2:g.26461789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461789T>C , CM000664.2:g.26461789T>C	GRCh38
NC_000002.11:g.26684657T>C , CM000664.1:g.26684657T>C	GRCh37
NC_000002.10:g.26538161T>C	NCBI36
NG_009937.1:g.101910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5440A>G MANE Select	ENSP00000272371.2:p.Met1814Val
ENST00000339598.8:c.3139A>G MANE Plus Clinical	ENSP00000344521.3:p.Met1047Val
ENST00000402415.8:c.3199A>G	ENSP00000383906.4:p.Met1067Val
ENST00000272371.6:c.5440A>G	ENSP00000272371.2:p.Met1814Val
ENST00000338581.10:c.3139A>G	ENSP00000345137.6:p.Met1047Val
ENST00000339598.7:c.3139A>G	ENSP00000344521.3:p.Met1047Val
ENST00000402415.7:c.3370A>G	ENSP00000383906.3:p.Met1124Val
ENST00000403946.7:c.5440A>G	ENSP00000385255.3:p.Met1814Val
NM_001287489.1:c.5440A>G	NP_001274418.1:p.Met1814Val
NM_004802.3:c.3139A>G	NP_004793.2:p.Met1047Val
NM_194248.2:c.5440A>G	NP_919224.1:p.Met1814Val
NM_194322.2:c.3370A>G	NP_919303.1:p.Met1124Val
NM_194323.2:c.3139A>G	NP_919304.1:p.Met1047Val
XM_005264644.2:c.5425A>G	XP_005264701.1:p.Met1809Val
XM_011533185.1:c.5485A>G	XP_011531487.1:p.Met1829Val
XM_017005338.1:c.5380A>G	XP_016860827.1:p.Met1794Val
NM_001287489.2:c.5440A>G	NP_001274418.1:p.Met1814Val
NM_004802.4:c.3139A>G	NP_004793.2:p.Met1047Val
NM_194248.3:c.5440A>G MANE Select	NP_919224.1:p.Met1814Val
NM_194322.3:c.3370A>G	NP_919303.1:p.Met1124Val
NM_194323.3:c.3139A>G MANE Plus Clinical	NP_919304.1:p.Met1047Val