Canonical Allele Identifier: CA346131468

Gene: OTOF

Linked Data

• ClinVar Variation Id: 1185575
• ClinVar RCV Id: RCV001730842
• dbSNP Id: rs1487432642
• gnomAD v4: 2-26461798-T-A
• MyVariant Identifiers: chr2:g.26684666T>A (hg19) ; chr2:g.26461798T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26461798T>A , CM000664.2:g.26461798T>A	GRCh38
NC_000002.11:g.26684666T>A , CM000664.1:g.26684666T>A	GRCh37
NC_000002.10:g.26538170T>A	NCBI36
NG_009937.1:g.101901A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5431A>T MANE Select	ENSP00000272371.2:p.Lys1811Ter
ENST00000339598.8:c.3130A>T MANE Plus Clinical	ENSP00000344521.3:p.Lys1044Ter
ENST00000402415.8:c.3190A>T	ENSP00000383906.4:p.Lys1064Ter
ENST00000272371.6:c.5431A>T	ENSP00000272371.2:p.Lys1811Ter
ENST00000338581.10:c.3130A>T	ENSP00000345137.6:p.Lys1044Ter
ENST00000339598.7:c.3130A>T	ENSP00000344521.3:p.Lys1044Ter
ENST00000402415.7:c.3361A>T	ENSP00000383906.3:p.Lys1121Ter
ENST00000403946.7:c.5431A>T	ENSP00000385255.3:p.Lys1811Ter
NM_001287489.1:c.5431A>T	NP_001274418.1:p.Lys1811Ter
NM_004802.3:c.3130A>T	NP_004793.2:p.Lys1044Ter
NM_194248.2:c.5431A>T	NP_919224.1:p.Lys1811Ter
NM_194322.2:c.3361A>T	NP_919303.1:p.Lys1121Ter
NM_194323.2:c.3130A>T	NP_919304.1:p.Lys1044Ter
XM_005264644.2:c.5416A>T	XP_005264701.1:p.Lys1806Ter
XM_011533185.1:c.5476A>T	XP_011531487.1:p.Lys1826Ter
XM_017005338.1:c.5371A>T	XP_016860827.1:p.Lys1791Ter
NM_001287489.2:c.5431A>T	NP_001274418.1:p.Lys1811Ter
NM_004802.4:c.3130A>T	NP_004793.2:p.Lys1044Ter
NM_194248.3:c.5431A>T MANE Select	NP_919224.1:p.Lys1811Ter
NM_194322.3:c.3361A>T	NP_919303.1:p.Lys1121Ter
NM_194323.3:c.3130A>T MANE Plus Clinical	NP_919304.1:p.Lys1044Ter