Canonical Allele Identifier: CA389347416
Gene: COCH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30885418A>T , CM000676.2:g.30885418A>T GRCh38
NC_000014.8:g.31354624A>T , CM000676.1:g.31354624A>T GRCh37
NC_000014.7:g.30424375A>T NCBI36
NG_008211.2:g.15884A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.953A>T ENSP00000216361.5:p.Gln318Leu
ENST00000396618.9:c.758A>T MANE Select ENSP00000379862.3:p.Gln253Leu
ENST00000555117.2:c.815A>T ENSP00000493569.1:p.Gln272Leu
ENST00000643575.1:c.758A>T ENSP00000494838.1:p.Gln253Leu
ENST00000643697.1:n.1060A>T
ENST00000644874.2:c.758A>T ENSP00000496360.1:p.Gln253Leu
ENST00000216361.8:c.758A>T ENSP00000216361.4:p.Gln253Leu
ENST00000396618.7:c.758A>T ENSP00000379862.3:p.Gln253Leu
ENST00000460581.6:c.422A>T ENSP00000451713.1:p.Gln141Leu
ENST00000468826.2:c.409A>T
ENST00000475087.5:c.758A>T ENSP00000451528.1:p.Gln253Leu
ENST00000555881.5:c.404A>T ENSP00000452569.1:p.Gln135Leu
ENST00000557065.1:c.540A>T ENSP00000451629.1:n.540A>T
NM_001135058.1:c.758A>T NP_001128530.1:p.Gln253Leu
NM_004086.2:c.758A>T NP_004077.1:p.Gln253Leu
NR_038356.1:n.1447T>A
XM_011536539.1:c.758A>T XP_011534841.1:p.Gln253Leu
NM_001347720.1:c.953A>T NP_001334649.1:p.Gln318Leu
XM_017021071.1:c.953A>T XP_016876560.1:p.Gln318Leu
XM_024449506.1:c.815A>T XP_024305274.1:p.Gln272Leu
NM_004086.3:c.758A>T MANE Select NP_004077.1:p.Gln253Leu
NM_001135058.2:c.758A>T NP_001128530.1:p.Gln253Leu
NM_001347720.2:c.953A>T NP_001334649.1:p.Gln318Leu