Canonical Allele Identifier: CA2126960906

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889763G= , CM000676.2:g.30889763G=	GRCh38
NC_000014.8:g.31358969G= , CM000676.1:g.31358969G=	GRCh37
NC_000014.7:g.30428720G=	NCBI36
NG_008211.2:g.20229G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004086.3:c.1625G= MANE Select	NP_004077.1:p.Cys542=
ENST00000396618.9:c.1625G= MANE Select	ENSP00000379862.3:p.Cys542=
NM_001135058.1:c.1625G=	NP_001128530.1:p.Cys542=
NM_001135058.2:c.1625G=	NP_001128530.1:p.Cys542=
NM_001347720.1:c.1820G=	NP_001334649.1:p.Cys607=
NM_001347720.2:c.1820G=	NP_001334649.1:p.Cys607=
NM_004086.2:c.1625G=	NP_004077.1:p.Cys542=
NR_038356.1:n.46C=
ENST00000216361.8:c.1625G=	ENSP00000216361.4:p.Cys542=
ENST00000216361.9:c.1820G=	ENSP00000216361.5:p.Cys607=
ENST00000396618.7:c.1625G=	ENSP00000379862.3:p.Cys542=
ENST00000460581.6:c.1289G=	ENSP00000451713.1:p.Cys430=
ENST00000468826.2:c.1276G=
ENST00000475087.5:c.1477+3451G=	ENSP00000451528.1:n.1477+3451G=
ENST00000555117.2:c.1534+3451G=	ENSP00000493569.1:n.1534+3451G=
ENST00000643575.1:c.1625G=	ENSP00000494838.1:p.Cys542=
ENST00000643697.1:n.1927G=
ENST00000644874.2:c.1625G=	ENSP00000496360.1:p.Cys542=
XM_011536539.1:c.1625G=	XP_011534841.1:p.Cys542=
XM_017021071.1:c.1820G=	XP_016876560.1:p.Cys607=
XM_024449506.1:c.1682G=	XP_024305274.1:p.Cys561=