Canonical Allele Identifier: CA389344678

Gene: COCH

Linked Data

• ClinVar Variation Id: 1028194
• ClinVar RCV Id: RCV001329177
• dbSNP Id: rs1281507766
• gnomAD v2: 14-31348106-A-G
• gnomAD v4: 14-30878900-A-G
• MyVariant Identifiers: chr14:g.31348106A>G (hg19) ; chr14:g.30878900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878900A>G , CM000676.2:g.30878900A>G	GRCh38
NC_000014.8:g.31348106A>G , CM000676.1:g.31348106A>G	GRCh37
NC_000014.7:g.30417857A>G	NCBI36
NG_008211.2:g.9366A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.524A>G	ENSP00000216361.5:p.Gln175Arg
ENST00000396618.9:c.329A>G MANE Select	ENSP00000379862.3:p.Gln110Arg
ENST00000555117.2:c.329A>G	ENSP00000493569.1:p.Gln110Arg
ENST00000643575.1:c.329A>G	ENSP00000494838.1:p.Gln110Arg
ENST00000643697.1:n.574A>G
ENST00000644874.2:c.329A>G	ENSP00000496360.1:p.Gln110Arg
ENST00000216361.8:c.329A>G	ENSP00000216361.4:p.Gln110Arg
ENST00000396618.7:c.329A>G	ENSP00000379862.3:p.Gln110Arg
ENST00000460581.6:c.-8A>G	ENSP00000451713.1:n.-8A>G
ENST00000475087.5:c.329A>G	ENSP00000451528.1:p.Gln110Arg
ENST00000553772.5:c.239+1172A>G	ENSP00000452343.1:n.239+1172A>G
ENST00000553833.5:n.483A>G
ENST00000555881.5:c.83-1552A>G	ENSP00000452569.1:n.83-1552A>G
ENST00000556908.5:c.281A>G	ENSP00000452541.1:p.Gln94Arg
ENST00000557065.1:c.156-523A>G	ENSP00000451629.1:n.156-523A>G
NM_001135058.1:c.329A>G	NP_001128530.1:p.Gln110Arg
NM_004086.2:c.329A>G	NP_004077.1:p.Gln110Arg
NR_038356.1:n.1618-2348T>C
XM_011536539.1:c.329A>G	XP_011534841.1:p.Gln110Arg
NM_001347720.1:c.524A>G	NP_001334649.1:p.Gln175Arg
XM_017021071.1:c.524A>G	XP_016876560.1:p.Gln175Arg
XM_024449506.1:c.329A>G	XP_024305274.1:p.Gln110Arg
NM_004086.3:c.329A>G MANE Select	NP_004077.1:p.Gln110Arg
NM_001135058.2:c.329A>G	NP_001128530.1:p.Gln110Arg
NM_001347720.2:c.524A>G	NP_001334649.1:p.Gln175Arg