Canonical Allele Identifier: CA2126957408

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885427T= , CM000676.2:g.30885427T=	GRCh38
NC_000014.8:g.31354633T= , CM000676.1:g.31354633T=	GRCh37
NC_000014.7:g.30424384T=	NCBI36
NG_008211.2:g.15893T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.962T=	ENSP00000216361.5:p.Phe321=
ENST00000396618.9:c.767T= MANE Select	ENSP00000379862.3:p.Phe256=
ENST00000555117.2:c.824T=	ENSP00000493569.1:p.Phe275=
ENST00000643575.1:c.767T=	ENSP00000494838.1:p.Phe256=
ENST00000643697.1:n.1069T=
ENST00000644874.2:c.767T=	ENSP00000496360.1:p.Phe256=
ENST00000216361.8:c.767T=	ENSP00000216361.4:p.Phe256=
ENST00000396618.7:c.767T=	ENSP00000379862.3:p.Phe256=
ENST00000460581.6:c.431T=	ENSP00000451713.1:p.Phe144=
ENST00000468826.2:c.418T=
ENST00000475087.5:c.767T=	ENSP00000451528.1:p.Phe256=
ENST00000555881.5:c.413T=	ENSP00000452569.1:p.Phe138=
ENST00000557065.1:c.549T=	ENSP00000451629.1:n.549T=
NM_001135058.1:c.767T=	NP_001128530.1:p.Phe256=
NM_004086.2:c.767T=	NP_004077.1:p.Phe256=
NR_038356.1:n.1438A=
XM_011536539.1:c.767T=	XP_011534841.1:p.Phe256=
NM_001347720.1:c.962T=	NP_001334649.1:p.Phe321=
XM_017021071.1:c.962T=	XP_016876560.1:p.Phe321=
XM_024449506.1:c.824T=	XP_024305274.1:p.Phe275=
NM_004086.3:c.767T= MANE Select	NP_004077.1:p.Phe256=
NM_001135058.2:c.767T=	NP_001128530.1:p.Phe256=
NM_001347720.2:c.962T=	NP_001334649.1:p.Phe321=