Canonical Allele Identifier: CA389349630
Gene: COCH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30889709C>G , CM000676.2:g.30889709C>G GRCh38
NC_000014.8:g.31358915C>G , CM000676.1:g.31358915C>G GRCh37
NC_000014.7:g.30428666C>G NCBI36
NG_008211.2:g.20175C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.1766C>G ENSP00000216361.5:p.Thr589Arg
ENST00000396618.9:c.1571C>G MANE Select ENSP00000379862.3:p.Thr524Arg
ENST00000555117.2:c.1534+3397C>G ENSP00000493569.1:n.1534+3397C>G
ENST00000643575.1:c.1571C>G ENSP00000494838.1:p.Thr524Arg
ENST00000643697.1:n.1873C>G
ENST00000644874.2:c.1571C>G ENSP00000496360.1:p.Thr524Arg
ENST00000216361.8:c.1571C>G ENSP00000216361.4:p.Thr524Arg
ENST00000396618.7:c.1571C>G ENSP00000379862.3:p.Thr524Arg
ENST00000460581.6:c.1235C>G ENSP00000451713.1:p.Thr412Arg
ENST00000468826.2:c.1222C>G
ENST00000475087.5:c.1477+3397C>G ENSP00000451528.1:n.1477+3397C>G
NM_001135058.1:c.1571C>G NP_001128530.1:p.Thr524Arg
NM_004086.2:c.1571C>G NP_004077.1:p.Thr524Arg
NR_038356.1:n.100G>C
XM_011536539.1:c.1571C>G XP_011534841.1:p.Thr524Arg
NM_001347720.1:c.1766C>G NP_001334649.1:p.Thr589Arg
XM_017021071.1:c.1766C>G XP_016876560.1:p.Thr589Arg
XM_024449506.1:c.1628C>G XP_024305274.1:p.Thr543Arg
NM_004086.3:c.1571C>G MANE Select NP_004077.1:p.Thr524Arg
NM_001135058.2:c.1571C>G NP_001128530.1:p.Thr524Arg
NM_001347720.2:c.1766C>G NP_001334649.1:p.Thr589Arg