Canonical Allele Identifier: CA2624448392

Gene: COCH

Linked Data

• gnomAD v4: 14-30885468-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885469dup , CM000676.2:g.30885469dup	GRCh38
NC_000014.8:g.31354675dup , CM000676.1:g.31354675dup	GRCh37
NC_000014.7:g.30424426dup	NCBI36
NG_008211.2:g.15935dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1004dup	ENSP00000216361.5:p.Val336GlyfsTer5
ENST00000396618.9:c.809dup MANE Select	ENSP00000379862.3:p.Val271GlyfsTer5
ENST00000555117.2:c.866dup	ENSP00000493569.1:p.Val290GlyfsTer5
ENST00000643575.1:c.809dup	ENSP00000494838.1:p.Val271GlyfsTer5
ENST00000643697.1:n.1111dup
ENST00000644874.2:c.809dup	ENSP00000496360.1:p.Val271GlyfsTer5
ENST00000216361.8:c.809dup	ENSP00000216361.4:p.Val271GlyfsTer5
ENST00000396618.7:c.809dup	ENSP00000379862.3:p.Val271GlyfsTer5
ENST00000460581.6:c.473dup	ENSP00000451713.1:p.Val159GlyfsTer5
ENST00000468826.2:c.460dup
ENST00000475087.5:c.809dup	ENSP00000451528.1:p.Val271GlyfsTer5
ENST00000555881.5:c.455dup	ENSP00000452569.1:p.Val153GlyfsTer5
ENST00000557065.1:c.591dup	ENSP00000451629.1:n.591dup
NM_001135058.1:c.809dup	NP_001128530.1:p.Val271GlyfsTer5
NM_004086.2:c.809dup	NP_004077.1:p.Val271GlyfsTer5
NR_038356.1:n.1396dup
XM_011536539.1:c.809dup	XP_011534841.1:p.Val271GlyfsTer5
NM_001347720.1:c.1004dup	NP_001334649.1:p.Val336GlyfsTer5
XM_017021071.1:c.1004dup	XP_016876560.1:p.Val336GlyfsTer5
XM_024449506.1:c.866dup	XP_024305274.1:p.Val290GlyfsTer5
NM_004086.3:c.809dup MANE Select	NP_004077.1:p.Val271GlyfsTer5
NM_001135058.2:c.809dup	NP_001128530.1:p.Val271GlyfsTer5
NM_001347720.2:c.1004dup	NP_001334649.1:p.Val336GlyfsTer5