Canonical Allele Identifier: CA7142930

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30877597C>T , CM000676.2:g.30877597C>T	GRCh38
NC_000014.8:g.31346803C>T , CM000676.1:g.31346803C>T	GRCh37
NC_000014.7:g.30416554C>T	NCBI36
NG_008211.2:g.8063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.303C>T	ENSP00000216361.5:p.Thr101=
ENST00000396618.9:c.108C>T MANE Select	ENSP00000379862.3:p.Thr36=
ENST00000555117.2:c.108C>T	ENSP00000493569.1:p.Thr36=
ENST00000643575.1:c.108C>T	ENSP00000494838.1:p.Thr36=
ENST00000643697.1:n.353C>T
ENST00000644874.2:c.108C>T	ENSP00000496360.1:p.Thr36=
ENST00000216361.8:c.108C>T	ENSP00000216361.4:p.Thr36=
ENST00000396618.7:c.108C>T	ENSP00000379862.3:p.Thr36=
ENST00000460581.6:c.-229C>T	ENSP00000451713.1:n.-229C>T
ENST00000475087.5:c.108C>T	ENSP00000451528.1:p.Thr36=
ENST00000553772.5:c.108C>T	ENSP00000452343.1:p.Thr36=
ENST00000553833.5:n.262C>T
ENST00000555881.5:c.82+2494C>T	ENSP00000452569.1:n.82+2494C>T
ENST00000556908.5:c.60C>T	ENSP00000452541.1:p.Thr20=
ENST00000557065.1:c.24C>T	ENSP00000451629.1:p.Thr8=
NM_001135058.1:c.108C>T	NP_001128530.1:p.Thr36=
NM_004086.2:c.108C>T	NP_004077.1:p.Thr36=
NR_038356.1:n.1618-1045G>A
XM_011536539.1:c.108C>T	XP_011534841.1:p.Thr36=
NM_001347720.1:c.303C>T	NP_001334649.1:p.Thr101=
XM_017021071.1:c.303C>T	XP_016876560.1:p.Thr101=
XM_024449506.1:c.108C>T	XP_024305274.1:p.Thr36=
NM_004086.3:c.108C>T MANE Select	NP_004077.1:p.Thr36=
NM_001135058.2:c.108C>T	NP_001128530.1:p.Thr36=
NM_001347720.2:c.303C>T	NP_001334649.1:p.Thr101=