Canonical Allele Identifier: CA258544487

Gene: COCH

Linked Data

• ClinVar Variation Id: 883574
• ClinVar RCV Id: RCV001114109
• dbSNP Id: rs867385285
• gnomAD v2: 14-31359429-T-C
• gnomAD v3: 14-30890223-T-C
• gnomAD v4: 14-30890223-T-C
• MyVariant Identifiers: chr14:g.31359429T>C (hg19) ; chr14:g.30890223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30890223T>C , CM000676.2:g.30890223T>C	GRCh38
NC_000014.8:g.31359429T>C , CM000676.1:g.31359429T>C	GRCh37
NC_000014.7:g.30429180T>C	NCBI36
NG_008211.2:g.20689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396618.9:c.*432T>C MANE Select	ENSP00000379862.3:n.*432T>C
ENST00000555117.2:c.1534+3911T>C	ENSP00000493569.1:n.1534+3911T>C
ENST00000643575.1:c.*2+430T>C	ENSP00000494838.1:n.*2+430T>C
ENST00000644874.2:c.*432T>C	ENSP00000496360.1:n.*432T>C
ENST00000396618.7:c.*432T>C	ENSP00000379862.3:n.*432T>C
ENST00000460581.6:c.*432T>C	ENSP00000451713.1:n.*432T>C
ENST00000468826.2:c.1736T>C
ENST00000475087.5:c.1477+3911T>C	ENSP00000451528.1:n.1477+3911T>C
NM_001135058.1:c.*432T>C	NP_001128530.1:n.*432T>C
NM_004086.2:c.*432T>C	NP_004077.1:n.*432T>C
XM_011536539.1:c.*2+430T>C	XP_011534841.1:n.*2+430T>C
NM_001347720.1:c.*432T>C	NP_001334649.1:n.*432T>C
XM_017021071.1:c.*432T>C	XP_016876560.1:n.*432T>C
XM_024449506.1:c.*432T>C	XP_024305274.1:n.*432T>C
NM_004086.3:c.*432T>C MANE Select	NP_004077.1:n.*432T>C
NM_001135058.2:c.*432T>C	NP_001128530.1:n.*432T>C
NM_001347720.2:c.*432T>C	NP_001334649.1:n.*432T>C