Canonical Allele Identifier: CA183969

Gene: OTOF

Linked Data

• ClinVar Variation Id: 179217
• ClinVar RCV Id: RCV000156003
• dbSNP Id: rs727504716
• ExAC: 2:26706501 G / A
• gnomAD v2: 2-26706501-G-A
• gnomAD v3: 2-26483633-G-A
• gnomAD v4: 2-26483633-G-A
• MyVariant Identifiers: chr2:g.26706501G>A (hg19) ; chr2:g.26483633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26483633G>A , CM000664.2:g.26483633G>A	GRCh38
NC_000002.11:g.26706501G>A , CM000664.1:g.26706501G>A	GRCh37
NC_000002.10:g.26560005G>A	NCBI36
NG_009937.1:g.80066C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.1221C>T MANE Select	ENSP00000272371.2:p.Pro407=
ENST00000272371.6:c.1221C>T	ENSP00000272371.2:p.Pro407=
ENST00000403946.7:c.1221C>T	ENSP00000385255.3:p.Pro407=
NM_001287489.1:c.1221C>T	NP_001274418.1:p.Pro407=
NM_194248.2:c.1221C>T	NP_919224.1:p.Pro407=
XM_005264644.2:c.1266C>T	XP_005264701.1:p.Pro422=
XM_011533185.1:c.1266C>T	XP_011531487.1:p.Pro422=
XM_017005338.1:c.1221C>T	XP_016860827.1:p.Pro407=
NM_001287489.2:c.1221C>T	NP_001274418.1:p.Pro407=
NM_194248.3:c.1221C>T MANE Select	NP_919224.1:p.Pro407=