Canonical Allele Identifier: CA44413762

Gene: OTOF

Linked Data

• dbSNP Id: rs911057526
• gnomAD v4: 2-26467233-C-G
• MyVariant Identifiers: chr2:g.26690101C>G (hg19) ; chr2:g.26467233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467233C>G , CM000664.2:g.26467233C>G	GRCh38
NC_000002.11:g.26690101C>G , CM000664.1:g.26690101C>G	GRCh37
NC_000002.10:g.26543605C>G	NCBI36
NG_009937.1:g.96466G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4228G>C MANE Select	ENSP00000272371.2:p.Val1410Leu
ENST00000339598.8:c.1927G>C MANE Plus Clinical	ENSP00000344521.3:p.Val643Leu
ENST00000402415.8:c.1987G>C	ENSP00000383906.4:p.Val663Leu
ENST00000272371.6:c.4228G>C	ENSP00000272371.2:p.Val1410Leu
ENST00000338581.10:c.1927G>C	ENSP00000345137.6:p.Val643Leu
ENST00000339598.7:c.1927G>C	ENSP00000344521.3:p.Val643Leu
ENST00000402415.7:c.2158G>C	ENSP00000383906.3:p.Val720Leu
ENST00000403946.7:c.4228G>C	ENSP00000385255.3:p.Val1410Leu
NM_001287489.1:c.4228G>C	NP_001274418.1:p.Val1410Leu
NM_004802.3:c.1927G>C	NP_004793.2:p.Val643Leu
NM_194248.2:c.4228G>C	NP_919224.1:p.Val1410Leu
NM_194322.2:c.2158G>C	NP_919303.1:p.Val720Leu
NM_194323.2:c.1927G>C	NP_919304.1:p.Val643Leu
XM_005264644.2:c.4213G>C	XP_005264701.1:p.Val1405Leu
XM_011533185.1:c.4273G>C	XP_011531487.1:p.Val1425Leu
XM_017005338.1:c.4168G>C	XP_016860827.1:p.Val1390Leu
NM_001287489.2:c.4228G>C	NP_001274418.1:p.Val1410Leu
NM_004802.4:c.1927G>C	NP_004793.2:p.Val643Leu
NM_194248.3:c.4228G>C MANE Select	NP_919224.1:p.Val1410Leu
NM_194322.3:c.2158G>C	NP_919303.1:p.Val720Leu
NM_194323.3:c.1927G>C MANE Plus Clinical	NP_919304.1:p.Val643Leu