Canonical Allele Identifier: CA7142994

Gene: COCH

Linked Data

• ClinVar Variation Id: 883529
• ClinVar RCV Id: RCV001114022 ; RCV001856502 ; RCV002558135
• dbSNP Id: rs764704351
• ExAC: 14:31348070 G / A
• gnomAD v2: 14-31348070-G-A
• gnomAD v3: 14-30878864-G-A
• gnomAD v4: 14-30878864-G-A
• COSMIC: COSM4901340
• MyVariant Identifiers: chr14:g.31348070G>A (hg19) ; chr14:g.30878864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878864G>A , CM000676.2:g.30878864G>A	GRCh38
NC_000014.8:g.31348070G>A , CM000676.1:g.31348070G>A	GRCh37
NC_000014.7:g.30417821G>A	NCBI36
NG_008211.2:g.9330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.488G>A	ENSP00000216361.5:p.Arg163Gln
ENST00000396618.9:c.293G>A MANE Select	ENSP00000379862.3:p.Arg98Gln
ENST00000555117.2:c.293G>A	ENSP00000493569.1:p.Arg98Gln
ENST00000643575.1:c.293G>A	ENSP00000494838.1:p.Arg98Gln
ENST00000643697.1:n.538G>A
ENST00000644874.2:c.293G>A	ENSP00000496360.1:p.Arg98Gln
ENST00000216361.8:c.293G>A	ENSP00000216361.4:p.Arg98Gln
ENST00000396618.7:c.293G>A	ENSP00000379862.3:p.Arg98Gln
ENST00000460581.6:c.-44G>A	ENSP00000451713.1:n.-44G>A
ENST00000475087.5:c.293G>A	ENSP00000451528.1:p.Arg98Gln
ENST00000553772.5:c.239+1136G>A	ENSP00000452343.1:n.239+1136G>A
ENST00000553833.5:n.447G>A
ENST00000555881.5:c.83-1588G>A	ENSP00000452569.1:n.83-1588G>A
ENST00000556908.5:c.245G>A	ENSP00000452541.1:p.Arg82Gln
ENST00000557065.1:c.156-559G>A	ENSP00000451629.1:n.156-559G>A
NM_001135058.1:c.293G>A	NP_001128530.1:p.Arg98Gln
NM_004086.2:c.293G>A	NP_004077.1:p.Arg98Gln
NR_038356.1:n.1618-2312C>T
XM_011536539.1:c.293G>A	XP_011534841.1:p.Arg98Gln
NM_001347720.1:c.488G>A	NP_001334649.1:p.Arg163Gln
XM_017021071.1:c.488G>A	XP_016876560.1:p.Arg163Gln
XM_024449506.1:c.293G>A	XP_024305274.1:p.Arg98Gln
NM_004086.3:c.293G>A MANE Select	NP_004077.1:p.Arg98Gln
NM_001135058.2:c.293G>A	NP_001128530.1:p.Arg98Gln
NM_001347720.2:c.488G>A	NP_001334649.1:p.Arg163Gln