Canonical Allele Identifier: CA2126961050

Gene: COCH

Linked Data

• dbSNP Id: rs1895926122

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889852C>T , CM000676.2:g.30889852C>T	GRCh38
NC_000014.8:g.31359058C>T , CM000676.1:g.31359058C>T	GRCh37
NC_000014.7:g.30428809C>T	NCBI36
NG_008211.2:g.20318C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.*61C>T	ENSP00000216361.5:n.*61C>T
ENST00000396618.9:c.*61C>T MANE Select	ENSP00000379862.3:n.*61C>T
ENST00000555117.2:c.1534+3540C>T	ENSP00000493569.1:n.1534+3540C>T
ENST00000643575.1:c.*2+59C>T	ENSP00000494838.1:n.*2+59C>T
ENST00000643697.1:n.2016C>T
ENST00000644874.2:c.*61C>T	ENSP00000496360.1:n.*61C>T
ENST00000216361.8:c.*61C>T	ENSP00000216361.4:n.*61C>T
ENST00000396618.7:c.*61C>T	ENSP00000379862.3:n.*61C>T
ENST00000460581.6:c.*61C>T	ENSP00000451713.1:n.*61C>T
ENST00000468826.2:c.1365C>T
ENST00000475087.5:c.1477+3540C>T	ENSP00000451528.1:n.1477+3540C>T
NM_001135058.1:c.*61C>T	NP_001128530.1:n.*61C>T
NM_004086.2:c.*61C>T	NP_004077.1:n.*61C>T
XM_011536539.1:c.*2+59C>T	XP_011534841.1:n.*2+59C>T
NM_001347720.1:c.*61C>T	NP_001334649.1:n.*61C>T
XM_017021071.1:c.*61C>T	XP_016876560.1:n.*61C>T
XM_024449506.1:c.*61C>T	XP_024305274.1:n.*61C>T
NM_004086.3:c.*61C>T MANE Select	NP_004077.1:n.*61C>T
NM_001135058.2:c.*61C>T	NP_001128530.1:n.*61C>T
NM_001347720.2:c.*61C>T	NP_001334649.1:n.*61C>T