Canonical Allele Identifier: CA258540651

Gene: COCH

Linked Data

• dbSNP Id: rs913285663
• gnomAD v3: 14-30885510-G-A
• gnomAD v4: 14-30885510-G-A
• MyVariant Identifiers: chr14:g.31354716G>A (hg19) ; chr14:g.30885510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885510G>A , CM000676.2:g.30885510G>A	GRCh38
NC_000014.8:g.31354716G>A , CM000676.1:g.31354716G>A	GRCh37
NC_000014.7:g.30424467G>A	NCBI36
NG_008211.2:g.15976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1045G>A	ENSP00000216361.5:p.Glu349Lys
ENST00000396618.9:c.850G>A MANE Select	ENSP00000379862.3:p.Glu284Lys
ENST00000555117.2:c.907G>A	ENSP00000493569.1:p.Glu303Lys
ENST00000643575.1:c.850G>A	ENSP00000494838.1:p.Glu284Lys
ENST00000643697.1:n.1152G>A
ENST00000644874.2:c.850G>A	ENSP00000496360.1:p.Glu284Lys
ENST00000216361.8:c.850G>A	ENSP00000216361.4:p.Glu284Lys
ENST00000396618.7:c.850G>A	ENSP00000379862.3:p.Glu284Lys
ENST00000460581.6:c.514G>A	ENSP00000451713.1:p.Glu172Lys
ENST00000468826.2:c.501G>A
ENST00000475087.5:c.850G>A	ENSP00000451528.1:p.Glu284Lys
ENST00000555881.5:c.496G>A	ENSP00000452569.1:p.Glu166Lys
ENST00000557065.1:c.632G>A	ENSP00000451629.1:n.632G>A
NM_001135058.1:c.850G>A	NP_001128530.1:p.Glu284Lys
NM_004086.2:c.850G>A	NP_004077.1:p.Glu284Lys
NR_038356.1:n.1355C>T
XM_011536539.1:c.850G>A	XP_011534841.1:p.Glu284Lys
NM_001347720.1:c.1045G>A	NP_001334649.1:p.Glu349Lys
XM_017021071.1:c.1045G>A	XP_016876560.1:p.Glu349Lys
XM_024449506.1:c.907G>A	XP_024305274.1:p.Glu303Lys
NM_004086.3:c.850G>A MANE Select	NP_004077.1:p.Glu284Lys
NM_001135058.2:c.850G>A	NP_001128530.1:p.Glu284Lys
NM_001347720.2:c.1045G>A	NP_001334649.1:p.Glu349Lys