Canonical Allele Identifier: CA253887
Gene: COCH HGNC NCBI

Linked Data

ClinVar Variation Id: 6610
ClinVar RCV Id: RCV000006989
dbSNP Id: rs121908929

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30878920T>C , CM000676.2:g.30878920T>C GRCh38
NC_000014.8:g.31348126T>C , CM000676.1:g.31348126T>C GRCh37
NC_000014.7:g.30417877T>C NCBI36
NG_008211.2:g.9386T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216361.9:c.544T>C ENSP00000216361.5:p.Trp182Arg
ENST00000396618.9:c.349T>C MANE Select ENSP00000379862.3:p.Trp117Arg
ENST00000555117.2:c.349T>C ENSP00000493569.1:p.Trp117Arg
ENST00000643575.1:c.349T>C ENSP00000494838.1:p.Trp117Arg
ENST00000643697.1:n.594T>C
ENST00000644874.2:c.349T>C ENSP00000496360.1:p.Trp117Arg
ENST00000216361.8:c.349T>C ENSP00000216361.4:p.Trp117Arg
ENST00000396618.7:c.349T>C ENSP00000379862.3:p.Trp117Arg
ENST00000460581.6:c.13T>C ENSP00000451713.1:p.Trp5Arg
ENST00000475087.5:c.349T>C ENSP00000451528.1:p.Trp117Arg
ENST00000553772.5:c.239+1192T>C ENSP00000452343.1:n.239+1192T>C
ENST00000553833.5:n.503T>C
ENST00000555881.5:c.83-1532T>C ENSP00000452569.1:n.83-1532T>C
ENST00000556908.5:c.301T>C ENSP00000452541.1:p.Trp101Arg
ENST00000557065.1:c.156-503T>C ENSP00000451629.1:n.156-503T>C
NM_001135058.1:c.349T>C NP_001128530.1:p.Trp117Arg
NM_004086.2:c.349T>C NP_004077.1:p.Trp117Arg
NR_038356.1:n.1618-2368A>G
XM_011536539.1:c.349T>C XP_011534841.1:p.Trp117Arg
NM_001347720.1:c.544T>C NP_001334649.1:p.Trp182Arg
XM_017021071.1:c.544T>C XP_016876560.1:p.Trp182Arg
XM_024449506.1:c.349T>C XP_024305274.1:p.Trp117Arg
NM_004086.3:c.349T>C MANE Select NP_004077.1:p.Trp117Arg
NM_001135058.2:c.349T>C NP_001128530.1:p.Trp117Arg
NM_001347720.2:c.544T>C NP_001334649.1:p.Trp182Arg