Canonical Allele Identifier: CA389348621
Gene: COCH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30886091T>A , CM000676.2:g.30886091T>A GRCh38
NC_000014.8:g.31355297T>A , CM000676.1:g.31355297T>A GRCh37
NC_000014.7:g.30425048T>A NCBI36
NG_008211.2:g.16557T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.1451T>A ENSP00000216361.5:p.Phe484Tyr
ENST00000396618.9:c.1256T>A MANE Select ENSP00000379862.3:p.Phe419Tyr
ENST00000555117.2:c.1313T>A ENSP00000493569.1:p.Phe438Tyr
ENST00000643575.1:c.1256T>A ENSP00000494838.1:p.Phe419Tyr
ENST00000643697.1:n.1558T>A
ENST00000644874.2:c.1256T>A ENSP00000496360.1:p.Phe419Tyr
ENST00000216361.8:c.1256T>A ENSP00000216361.4:p.Phe419Tyr
ENST00000396618.7:c.1256T>A ENSP00000379862.3:p.Phe419Tyr
ENST00000460581.6:c.920T>A ENSP00000451713.1:p.Phe307Tyr
ENST00000468826.2:c.907T>A
ENST00000475087.5:c.1256T>A ENSP00000451528.1:p.Phe419Tyr
NM_001135058.1:c.1256T>A NP_001128530.1:p.Phe419Tyr
NM_004086.2:c.1256T>A NP_004077.1:p.Phe419Tyr
NR_038356.1:n.774A>T
XM_011536539.1:c.1256T>A XP_011534841.1:p.Phe419Tyr
NM_001347720.1:c.1451T>A NP_001334649.1:p.Phe484Tyr
XM_017021071.1:c.1451T>A XP_016876560.1:p.Phe484Tyr
XM_024449506.1:c.1313T>A XP_024305274.1:p.Phe438Tyr
NM_004086.3:c.1256T>A MANE Select NP_004077.1:p.Phe419Tyr
NM_001135058.2:c.1256T>A NP_001128530.1:p.Phe419Tyr
NM_001347720.2:c.1451T>A NP_001334649.1:p.Phe484Tyr