Canonical Allele Identifier: CA2126957596

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885556T= , CM000676.2:g.30885556T=	GRCh38
NC_000014.8:g.31354762T= , CM000676.1:g.31354762T=	GRCh37
NC_000014.7:g.30424513T=	NCBI36
NG_008211.2:g.16022T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1091T=	ENSP00000216361.5:p.Val364=
ENST00000396618.9:c.896T= MANE Select	ENSP00000379862.3:p.Val299=
ENST00000555117.2:c.953T=	ENSP00000493569.1:p.Val318=
ENST00000643575.1:c.896T=	ENSP00000494838.1:p.Val299=
ENST00000643697.1:n.1198T=
ENST00000644874.2:c.896T=	ENSP00000496360.1:p.Val299=
ENST00000216361.8:c.896T=	ENSP00000216361.4:p.Val299=
ENST00000396618.7:c.896T=	ENSP00000379862.3:p.Val299=
ENST00000460581.6:c.560T=	ENSP00000451713.1:p.Val187=
ENST00000468826.2:c.547T=
ENST00000475087.5:c.896T=	ENSP00000451528.1:p.Val299=
ENST00000555881.5:c.542T=	ENSP00000452569.1:p.Val181=
NM_001135058.1:c.896T=	NP_001128530.1:p.Val299=
NM_004086.2:c.896T=	NP_004077.1:p.Val299=
NR_038356.1:n.1309A=
XM_011536539.1:c.896T=	XP_011534841.1:p.Val299=
NM_001347720.1:c.1091T=	NP_001334649.1:p.Val364=
XM_017021071.1:c.1091T=	XP_016876560.1:p.Val364=
XM_024449506.1:c.953T=	XP_024305274.1:p.Val318=
NM_004086.3:c.896T= MANE Select	NP_004077.1:p.Val299=
NM_001135058.2:c.896T=	NP_001128530.1:p.Val299=
NM_001347720.2:c.1091T=	NP_001334649.1:p.Val364=