Canonical Allele Identifier: CA180609

Gene: COCH

Linked Data

• ClinVar Variation Id: 177681
• ClinVar RCV Id: RCV000154280 ; RCV000843284
• dbSNP Id: rs2239581
• gnomAD v2: 14-31347012-T-C
• gnomAD v3: 14-30877806-T-C
• gnomAD v4: 14-30877806-T-C
• MyVariant Identifiers: chr14:g.31347012T>C (hg19) ; chr14:g.30877806T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30877806T>C , CM000676.2:g.30877806T>C	GRCh38
NC_000014.8:g.31347012T>C , CM000676.1:g.31347012T>C	GRCh37
NC_000014.7:g.30416763T>C	NCBI36
NG_008211.2:g.8272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.434+78T>C	ENSP00000216361.5:n.434+78T>C
ENST00000396618.9:c.239+78T>C MANE Select	ENSP00000379862.3:n.239+78T>C
ENST00000555117.2:c.239+78T>C	ENSP00000493569.1:n.239+78T>C
ENST00000643575.1:c.239+78T>C	ENSP00000494838.1:n.239+78T>C
ENST00000643697.1:n.484+78T>C
ENST00000644874.2:c.239+78T>C	ENSP00000496360.1:n.239+78T>C
ENST00000216361.8:c.239+78T>C	ENSP00000216361.4:n.239+78T>C
ENST00000396618.7:c.239+78T>C	ENSP00000379862.3:n.239+78T>C
ENST00000460581.6:c.-98+78T>C	ENSP00000451713.1:n.-98+78T>C
ENST00000475087.5:c.239+78T>C	ENSP00000451528.1:n.239+78T>C
ENST00000553772.5:c.239+78T>C	ENSP00000452343.1:n.239+78T>C
ENST00000553833.5:n.393+78T>C
ENST00000555881.5:c.83-2646T>C	ENSP00000452569.1:n.83-2646T>C
ENST00000556908.5:c.191+78T>C	ENSP00000452541.1:n.191+78T>C
ENST00000557065.1:c.155+78T>C	ENSP00000451629.1:n.155+78T>C
NM_001135058.1:c.239+78T>C	NP_001128530.1:n.239+78T>C
NM_004086.2:c.239+78T>C	NP_004077.1:n.239+78T>C
NR_038356.1:n.1618-1254A>G
XM_011536539.1:c.239+78T>C	XP_011534841.1:n.239+78T>C
NM_001347720.1:c.434+78T>C	NP_001334649.1:n.434+78T>C
XM_017021071.1:c.434+78T>C	XP_016876560.1:n.434+78T>C
XM_024449506.1:c.239+78T>C	XP_024305274.1:n.239+78T>C
NM_004086.3:c.239+78T>C MANE Select	NP_004077.1:n.239+78T>C
NM_001135058.2:c.239+78T>C	NP_001128530.1:n.239+78T>C
NM_001347720.2:c.434+78T>C	NP_001334649.1:n.434+78T>C