Canonical Allele Identifier: CA2126950678

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878837C= , CM000676.2:g.30878837C=	GRCh38
NC_000014.8:g.31348043C= , CM000676.1:g.31348043C=	GRCh37
NC_000014.7:g.30417794C=	NCBI36
NG_008211.2:g.9303C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.461C=	ENSP00000216361.5:p.Pro154=
ENST00000396618.9:c.266C= MANE Select	ENSP00000379862.3:p.Pro89=
ENST00000555117.2:c.266C=	ENSP00000493569.1:p.Pro89=
ENST00000643575.1:c.266C=	ENSP00000494838.1:p.Pro89=
ENST00000643697.1:n.511C=
ENST00000644874.2:c.266C=	ENSP00000496360.1:p.Pro89=
ENST00000216361.8:c.266C=	ENSP00000216361.4:p.Pro89=
ENST00000396618.7:c.266C=	ENSP00000379862.3:p.Pro89=
ENST00000460581.6:c.-71C=	ENSP00000451713.1:n.-71C=
ENST00000475087.5:c.266C=	ENSP00000451528.1:p.Pro89=
ENST00000553772.5:c.239+1109C=	ENSP00000452343.1:n.239+1109C=
ENST00000553833.5:n.420C=
ENST00000555881.5:c.83-1615C=	ENSP00000452569.1:n.83-1615C=
ENST00000556908.5:c.218C=	ENSP00000452541.1:p.Pro73=
ENST00000557065.1:c.156-586C=	ENSP00000451629.1:n.156-586C=
NM_001135058.1:c.266C=	NP_001128530.1:p.Pro89=
NM_004086.2:c.266C=	NP_004077.1:p.Pro89=
NR_038356.1:n.1618-2285G=
XM_011536539.1:c.266C=	XP_011534841.1:p.Pro89=
NM_001347720.1:c.461C=	NP_001334649.1:p.Pro154=
XM_017021071.1:c.461C=	XP_016876560.1:p.Pro154=
XM_024449506.1:c.266C=	XP_024305274.1:p.Pro89=
NM_004086.3:c.266C= MANE Select	NP_004077.1:p.Pro89=
NM_001135058.2:c.266C=	NP_001128530.1:p.Pro89=
NM_001347720.2:c.461C=	NP_001334649.1:p.Pro154=