Canonical Allele Identifier: CA2126951000

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879060C= , CM000676.2:g.30879060C=	GRCh38
NC_000014.8:g.31348266C= , CM000676.1:g.31348266C=	GRCh37
NC_000014.7:g.30418017C=	NCBI36
NG_008211.2:g.9526C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.568+116C=	ENSP00000216361.5:n.568+116C=
ENST00000396618.9:c.373+116C= MANE Select	ENSP00000379862.3:n.373+116C=
ENST00000555117.2:c.373+116C=	ENSP00000493569.1:n.373+116C=
ENST00000643575.1:c.373+116C=	ENSP00000494838.1:n.373+116C=
ENST00000643697.1:n.618+116C=
ENST00000644874.2:c.373+116C=	ENSP00000496360.1:n.373+116C=
ENST00000216361.8:c.373+116C=	ENSP00000216361.4:n.373+116C=
ENST00000396618.7:c.373+116C=	ENSP00000379862.3:n.373+116C=
ENST00000460581.6:c.37+116C=	ENSP00000451713.1:n.37+116C=
ENST00000475087.5:c.373+116C=	ENSP00000451528.1:n.373+116C=
ENST00000553772.5:c.239+1332C=	ENSP00000452343.1:n.239+1332C=
ENST00000553833.5:n.527+116C=
ENST00000555881.5:c.83-1392C=	ENSP00000452569.1:n.83-1392C=
ENST00000556908.5:c.325+116C=	ENSP00000452541.1:n.325+116C=
ENST00000557065.1:c.156-363C=	ENSP00000451629.1:n.156-363C=
NM_001135058.1:c.373+116C=	NP_001128530.1:n.373+116C=
NM_004086.2:c.373+116C=	NP_004077.1:n.373+116C=
NR_038356.1:n.1618-2508G=
XM_011536539.1:c.373+116C=	XP_011534841.1:n.373+116C=
NM_001347720.1:c.568+116C=	NP_001334649.1:n.568+116C=
XM_017021071.1:c.568+116C=	XP_016876560.1:n.568+116C=
XM_024449506.1:c.373+116C=	XP_024305274.1:n.373+116C=
NM_004086.3:c.373+116C= MANE Select	NP_004077.1:n.373+116C=
NM_001135058.2:c.373+116C=	NP_001128530.1:n.373+116C=
NM_001347720.2:c.568+116C=	NP_001334649.1:n.568+116C=