Canonical Allele Identifier: CA389344544

Gene: COCH

Linked Data

• ClinVar Variation Id: 517362
• ClinVar RCV Id: RCV000605898
• dbSNP Id: rs1555310861
• MyVariant Identifiers: chr14:g.31348037G>C (hg19) ; chr14:g.30878831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878831G>C , CM000676.2:g.30878831G>C	GRCh38
NC_000014.8:g.31348037G>C , CM000676.1:g.31348037G>C	GRCh37
NC_000014.7:g.30417788G>C	NCBI36
NG_008211.2:g.9297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.455G>C	ENSP00000216361.5:p.Gly152Ala
ENST00000396618.9:c.260G>C MANE Select	ENSP00000379862.3:p.Gly87Ala
ENST00000555117.2:c.260G>C	ENSP00000493569.1:p.Gly87Ala
ENST00000643575.1:c.260G>C	ENSP00000494838.1:p.Gly87Ala
ENST00000643697.1:n.505G>C
ENST00000644874.2:c.260G>C	ENSP00000496360.1:p.Gly87Ala
ENST00000216361.8:c.260G>C	ENSP00000216361.4:p.Gly87Ala
ENST00000396618.7:c.260G>C	ENSP00000379862.3:p.Gly87Ala
ENST00000460581.6:c.-77G>C	ENSP00000451713.1:n.-77G>C
ENST00000475087.5:c.260G>C	ENSP00000451528.1:p.Gly87Ala
ENST00000553772.5:c.239+1103G>C	ENSP00000452343.1:n.239+1103G>C
ENST00000553833.5:n.414G>C
ENST00000555881.5:c.83-1621G>C	ENSP00000452569.1:n.83-1621G>C
ENST00000556908.5:c.212G>C	ENSP00000452541.1:p.Gly71Ala
ENST00000557065.1:c.156-592G>C	ENSP00000451629.1:n.156-592G>C
NM_001135058.1:c.260G>C	NP_001128530.1:p.Gly87Ala
NM_004086.2:c.260G>C	NP_004077.1:p.Gly87Ala
NR_038356.1:n.1618-2279C>G
XM_011536539.1:c.260G>C	XP_011534841.1:p.Gly87Ala
NM_001347720.1:c.455G>C	NP_001334649.1:p.Gly152Ala
XM_017021071.1:c.455G>C	XP_016876560.1:p.Gly152Ala
XM_024449506.1:c.260G>C	XP_024305274.1:p.Gly87Ala
NM_004086.3:c.260G>C MANE Select	NP_004077.1:p.Gly87Ala
NM_001135058.2:c.260G>C	NP_001128530.1:p.Gly87Ala
NM_001347720.2:c.455G>C	NP_001334649.1:p.Gly152Ala