Canonical Allele Identifier: CA2126957462

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885465G= , CM000676.2:g.30885465G=	GRCh38
NC_000014.8:g.31354671G= , CM000676.1:g.31354671G=	GRCh37
NC_000014.7:g.30424422G=	NCBI36
NG_008211.2:g.15931G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1000G=	ENSP00000216361.5:p.Val334=
ENST00000396618.9:c.805G= MANE Select	ENSP00000379862.3:p.Val269=
ENST00000555117.2:c.862G=	ENSP00000493569.1:p.Val288=
ENST00000643575.1:c.805G=	ENSP00000494838.1:p.Val269=
ENST00000643697.1:n.1107G=
ENST00000644874.2:c.805G=	ENSP00000496360.1:p.Val269=
ENST00000216361.8:c.805G=	ENSP00000216361.4:p.Val269=
ENST00000396618.7:c.805G=	ENSP00000379862.3:p.Val269=
ENST00000460581.6:c.469G=	ENSP00000451713.1:p.Val157=
ENST00000468826.2:c.456G=
ENST00000475087.5:c.805G=	ENSP00000451528.1:p.Val269=
ENST00000555881.5:c.451G=	ENSP00000452569.1:p.Val151=
ENST00000557065.1:c.587G=	ENSP00000451629.1:n.587G=
NM_001135058.1:c.805G=	NP_001128530.1:p.Val269=
NM_004086.2:c.805G=	NP_004077.1:p.Val269=
NR_038356.1:n.1400C=
XM_011536539.1:c.805G=	XP_011534841.1:p.Val269=
NM_001347720.1:c.1000G=	NP_001334649.1:p.Val334=
XM_017021071.1:c.1000G=	XP_016876560.1:p.Val334=
XM_024449506.1:c.862G=	XP_024305274.1:p.Val288=
NM_004086.3:c.805G= MANE Select	NP_004077.1:p.Val269=
NM_001135058.2:c.805G=	NP_001128530.1:p.Val269=
NM_001347720.2:c.1000G=	NP_001334649.1:p.Val334=