Canonical Allele Identifier: CA389347386
Gene: COCH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30885410T>G , CM000676.2:g.30885410T>G GRCh38
NC_000014.8:g.31354616T>G , CM000676.1:g.31354616T>G GRCh37
NC_000014.7:g.30424367T>G NCBI36
NG_008211.2:g.15876T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.945T>G ENSP00000216361.5:p.His315Gln
ENST00000396618.9:c.750T>G MANE Select ENSP00000379862.3:p.His250Gln
ENST00000555117.2:c.807T>G ENSP00000493569.1:p.His269Gln
ENST00000643575.1:c.750T>G ENSP00000494838.1:p.His250Gln
ENST00000643697.1:n.1052T>G
ENST00000644874.2:c.750T>G ENSP00000496360.1:p.His250Gln
ENST00000216361.8:c.750T>G ENSP00000216361.4:p.His250Gln
ENST00000396618.7:c.750T>G ENSP00000379862.3:p.His250Gln
ENST00000460581.6:c.414T>G ENSP00000451713.1:p.His138Gln
ENST00000468826.2:c.401T>G
ENST00000475087.5:c.750T>G ENSP00000451528.1:p.His250Gln
ENST00000555881.5:c.396T>G ENSP00000452569.1:p.His132Gln
ENST00000557065.1:c.532T>G ENSP00000451629.1:n.532T>G
NM_001135058.1:c.750T>G NP_001128530.1:p.His250Gln
NM_004086.2:c.750T>G NP_004077.1:p.His250Gln
NR_038356.1:n.1452+3A>C
XM_011536539.1:c.750T>G XP_011534841.1:p.His250Gln
NM_001347720.1:c.945T>G NP_001334649.1:p.His315Gln
XM_017021071.1:c.945T>G XP_016876560.1:p.His315Gln
XM_024449506.1:c.807T>G XP_024305274.1:p.His269Gln
NM_004086.3:c.750T>G MANE Select NP_004077.1:p.His250Gln
NM_001135058.2:c.750T>G NP_001128530.1:p.His250Gln
NM_001347720.2:c.945T>G NP_001334649.1:p.His315Gln