Canonical Allele Identifier: CA7143339

Gene: COCH

Linked Data

• dbSNP Id: rs771588584
• ExAC: 14:31358782 GA / G
• gnomAD v2: 14-31358782-GA-G
• gnomAD v4: 14-30889576-GA-G
• MyVariant Identifiers: chr14:g.31358783del (hg19) ; chr14:g.30889577del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889577del , CM000676.2:g.30889577del	GRCh38
NC_000014.8:g.31358783del , CM000676.1:g.31358783del	GRCh37
NC_000014.7:g.30428534del	NCBI36
NG_008211.2:g.20043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1673-39del	ENSP00000216361.5:n.1673-39del
ENST00000396618.9:c.1478-39del MANE Select	ENSP00000379862.3:n.1478-39del
ENST00000555117.2:c.1534+3265del	ENSP00000493569.1:n.1534+3265del
ENST00000643575.1:c.1478-39del	ENSP00000494838.1:n.1478-39del
ENST00000643697.1:n.1780-39del
ENST00000644874.2:c.1478-39del	ENSP00000496360.1:n.1478-39del
ENST00000216361.8:c.1478-39del	ENSP00000216361.4:n.1478-39del
ENST00000396618.7:c.1478-39del	ENSP00000379862.3:n.1478-39del
ENST00000460581.6:c.1142-39del	ENSP00000451713.1:n.1142-39del
ENST00000468826.2:c.1129-39del
ENST00000475087.5:c.1477+3265del	ENSP00000451528.1:n.1477+3265del
NM_001135058.1:c.1478-39del	NP_001128530.1:n.1478-39del
NM_004086.2:c.1478-39del	NP_004077.1:n.1478-39del
NR_038356.1:n.232del
XM_011536539.1:c.1478-39del	XP_011534841.1:n.1478-39del
NM_001347720.1:c.1673-39del	NP_001334649.1:n.1673-39del
XM_017021071.1:c.1673-39del	XP_016876560.1:n.1673-39del
XM_024449506.1:c.1535-39del	XP_024305274.1:n.1535-39del
NM_004086.3:c.1478-39del MANE Select	NP_004077.1:n.1478-39del
NM_001135058.2:c.1478-39del	NP_001128530.1:n.1478-39del
NM_001347720.2:c.1673-39del	NP_001334649.1:n.1673-39del