Canonical Allele Identifier: CA7142934

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30877607G>A , CM000676.2:g.30877607G>A	GRCh38
NC_000014.8:g.31346813G>A , CM000676.1:g.31346813G>A	GRCh37
NC_000014.7:g.30416564G>A	NCBI36
NG_008211.2:g.8073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.313G>A	ENSP00000216361.5:p.Asp105Asn
ENST00000396618.9:c.118G>A MANE Select	ENSP00000379862.3:p.Asp40Asn
ENST00000555117.2:c.118G>A	ENSP00000493569.1:p.Asp40Asn
ENST00000643575.1:c.118G>A	ENSP00000494838.1:p.Asp40Asn
ENST00000643697.1:n.363G>A
ENST00000644874.2:c.118G>A	ENSP00000496360.1:p.Asp40Asn
ENST00000216361.8:c.118G>A	ENSP00000216361.4:p.Asp40Asn
ENST00000396618.7:c.118G>A	ENSP00000379862.3:p.Asp40Asn
ENST00000460581.6:c.-219G>A	ENSP00000451713.1:n.-219G>A
ENST00000475087.5:c.118G>A	ENSP00000451528.1:p.Asp40Asn
ENST00000553772.5:c.118G>A	ENSP00000452343.1:p.Asp40Asn
ENST00000553833.5:n.272G>A
ENST00000555881.5:c.82+2504G>A	ENSP00000452569.1:n.82+2504G>A
ENST00000556908.5:c.70G>A	ENSP00000452541.1:p.Asp24Asn
ENST00000557065.1:c.34G>A	ENSP00000451629.1:p.Asp12Asn
NM_001135058.1:c.118G>A	NP_001128530.1:p.Asp40Asn
NM_004086.2:c.118G>A	NP_004077.1:p.Asp40Asn
NR_038356.1:n.1618-1055C>T
XM_011536539.1:c.118G>A	XP_011534841.1:p.Asp40Asn
NM_001347720.1:c.313G>A	NP_001334649.1:p.Asp105Asn
XM_017021071.1:c.313G>A	XP_016876560.1:p.Asp105Asn
XM_024449506.1:c.118G>A	XP_024305274.1:p.Asp40Asn
NM_004086.3:c.118G>A MANE Select	NP_004077.1:p.Asp40Asn
NM_001135058.2:c.118G>A	NP_001128530.1:p.Asp40Asn
NM_001347720.2:c.313G>A	NP_001334649.1:p.Asp105Asn