Canonical Allele Identifier: CA7143196
Gene: COCH HGNC NCBI

Linked Data

dbSNP Id: rs763588874

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30885456A>C , CM000676.2:g.30885456A>C GRCh38
NC_000014.8:g.31354662A>C , CM000676.1:g.31354662A>C GRCh37
NC_000014.7:g.30424413A>C NCBI36
NG_008211.2:g.15922A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.991A>C ENSP00000216361.5:p.Ile331Leu
ENST00000396618.9:c.796A>C MANE Select ENSP00000379862.3:p.Ile266Leu
ENST00000555117.2:c.853A>C ENSP00000493569.1:p.Ile285Leu
ENST00000643575.1:c.796A>C ENSP00000494838.1:p.Ile266Leu
ENST00000643697.1:n.1098A>C
ENST00000644874.2:c.796A>C ENSP00000496360.1:p.Ile266Leu
ENST00000216361.8:c.796A>C ENSP00000216361.4:p.Ile266Leu
ENST00000396618.7:c.796A>C ENSP00000379862.3:p.Ile266Leu
ENST00000460581.6:c.460A>C ENSP00000451713.1:p.Ile154Leu
ENST00000468826.2:c.447A>C
ENST00000475087.5:c.796A>C ENSP00000451528.1:p.Ile266Leu
ENST00000555881.5:c.442A>C ENSP00000452569.1:p.Ile148Leu
ENST00000557065.1:c.578A>C ENSP00000451629.1:n.578A>C
NM_001135058.1:c.796A>C NP_001128530.1:p.Ile266Leu
NM_004086.2:c.796A>C NP_004077.1:p.Ile266Leu
NR_038356.1:n.1409T>G
XM_011536539.1:c.796A>C XP_011534841.1:p.Ile266Leu
NM_001347720.1:c.991A>C NP_001334649.1:p.Ile331Leu
XM_017021071.1:c.991A>C XP_016876560.1:p.Ile331Leu
XM_024449506.1:c.853A>C XP_024305274.1:p.Ile285Leu
NM_004086.3:c.796A>C MANE Select NP_004077.1:p.Ile266Leu
NM_001135058.2:c.796A>C NP_001128530.1:p.Ile266Leu
NM_001347720.2:c.991A>C NP_001334649.1:p.Ile331Leu