Canonical Allele Identifier: CA2126950706

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878854C= , CM000676.2:g.30878854C=	GRCh38
NC_000014.8:g.31348060C= , CM000676.1:g.31348060C=	GRCh37
NC_000014.7:g.30417811C=	NCBI36
NG_008211.2:g.9320C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.478C=	ENSP00000216361.5:p.Leu160=
ENST00000396618.9:c.283C= MANE Select	ENSP00000379862.3:p.Leu95=
ENST00000555117.2:c.283C=	ENSP00000493569.1:p.Leu95=
ENST00000643575.1:c.283C=	ENSP00000494838.1:p.Leu95=
ENST00000643697.1:n.528C=
ENST00000644874.2:c.283C=	ENSP00000496360.1:p.Leu95=
ENST00000216361.8:c.283C=	ENSP00000216361.4:p.Leu95=
ENST00000396618.7:c.283C=	ENSP00000379862.3:p.Leu95=
ENST00000460581.6:c.-54C=	ENSP00000451713.1:n.-54C=
ENST00000475087.5:c.283C=	ENSP00000451528.1:p.Leu95=
ENST00000553772.5:c.239+1126C=	ENSP00000452343.1:n.239+1126C=
ENST00000553833.5:n.437C=
ENST00000555881.5:c.83-1598C=	ENSP00000452569.1:n.83-1598C=
ENST00000556908.5:c.235C=	ENSP00000452541.1:p.Leu79=
ENST00000557065.1:c.156-569C=	ENSP00000451629.1:n.156-569C=
NM_001135058.1:c.283C=	NP_001128530.1:p.Leu95=
NM_004086.2:c.283C=	NP_004077.1:p.Leu95=
NR_038356.1:n.1618-2302G=
XM_011536539.1:c.283C=	XP_011534841.1:p.Leu95=
NM_001347720.1:c.478C=	NP_001334649.1:p.Leu160=
XM_017021071.1:c.478C=	XP_016876560.1:p.Leu160=
XM_024449506.1:c.283C=	XP_024305274.1:p.Leu95=
NM_004086.3:c.283C= MANE Select	NP_004077.1:p.Leu95=
NM_001135058.2:c.283C=	NP_001128530.1:p.Leu95=
NM_001347720.2:c.478C=	NP_001334649.1:p.Leu160=