Canonical Allele Identifier: CA2126957491

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885497T= , CM000676.2:g.30885497T=	GRCh38
NC_000014.8:g.31354703T= , CM000676.1:g.31354703T=	GRCh37
NC_000014.7:g.30424454T=	NCBI36
NG_008211.2:g.15963T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1032T=	ENSP00000216361.5:p.Ser344=
ENST00000396618.9:c.837T= MANE Select	ENSP00000379862.3:p.Ser279=
ENST00000555117.2:c.894T=	ENSP00000493569.1:p.Ser298=
ENST00000643575.1:c.837T=	ENSP00000494838.1:p.Ser279=
ENST00000643697.1:n.1139T=
ENST00000644874.2:c.837T=	ENSP00000496360.1:p.Ser279=
ENST00000216361.8:c.837T=	ENSP00000216361.4:p.Ser279=
ENST00000396618.7:c.837T=	ENSP00000379862.3:p.Ser279=
ENST00000460581.6:c.501T=	ENSP00000451713.1:p.Ser167=
ENST00000468826.2:c.488T=
ENST00000475087.5:c.837T=	ENSP00000451528.1:p.Ser279=
ENST00000555881.5:c.483T=	ENSP00000452569.1:p.Ser161=
ENST00000557065.1:c.619T=	ENSP00000451629.1:n.619T=
NM_001135058.1:c.837T=	NP_001128530.1:p.Ser279=
NM_004086.2:c.837T=	NP_004077.1:p.Ser279=
NR_038356.1:n.1368A=
XM_011536539.1:c.837T=	XP_011534841.1:p.Ser279=
NM_001347720.1:c.1032T=	NP_001334649.1:p.Ser344=
XM_017021071.1:c.1032T=	XP_016876560.1:p.Ser344=
XM_024449506.1:c.894T=	XP_024305274.1:p.Ser298=
NM_004086.3:c.837T= MANE Select	NP_004077.1:p.Ser279=
NM_001135058.2:c.837T=	NP_001128530.1:p.Ser279=
NM_001347720.2:c.1032T=	NP_001334649.1:p.Ser344=