Canonical Allele Identifier: CA389347590
Gene: COCH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30885466T>C , CM000676.2:g.30885466T>C GRCh38
NC_000014.8:g.31354672T>C , CM000676.1:g.31354672T>C GRCh37
NC_000014.7:g.30424423T>C NCBI36
NG_008211.2:g.15932T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.1001T>C ENSP00000216361.5:p.Val334Ala
ENST00000396618.9:c.806T>C MANE Select ENSP00000379862.3:p.Val269Ala
ENST00000555117.2:c.863T>C ENSP00000493569.1:p.Val288Ala
ENST00000643575.1:c.806T>C ENSP00000494838.1:p.Val269Ala
ENST00000643697.1:n.1108T>C
ENST00000644874.2:c.806T>C ENSP00000496360.1:p.Val269Ala
ENST00000216361.8:c.806T>C ENSP00000216361.4:p.Val269Ala
ENST00000396618.7:c.806T>C ENSP00000379862.3:p.Val269Ala
ENST00000460581.6:c.470T>C ENSP00000451713.1:p.Val157Ala
ENST00000468826.2:c.457T>C
ENST00000475087.5:c.806T>C ENSP00000451528.1:p.Val269Ala
ENST00000555881.5:c.452T>C ENSP00000452569.1:p.Val151Ala
ENST00000557065.1:c.588T>C ENSP00000451629.1:n.588T>C
NM_001135058.1:c.806T>C NP_001128530.1:p.Val269Ala
NM_004086.2:c.806T>C NP_004077.1:p.Val269Ala
NR_038356.1:n.1399A>G
XM_011536539.1:c.806T>C XP_011534841.1:p.Val269Ala
NM_001347720.1:c.1001T>C NP_001334649.1:p.Val334Ala
XM_017021071.1:c.1001T>C XP_016876560.1:p.Val334Ala
XM_024449506.1:c.863T>C XP_024305274.1:p.Val288Ala
NM_004086.3:c.806T>C MANE Select NP_004077.1:p.Val269Ala
NM_001135058.2:c.806T>C NP_001128530.1:p.Val269Ala
NM_001347720.2:c.1001T>C NP_001334649.1:p.Val334Ala