Canonical Allele Identifier: CA389347666

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354697G>C (hg19) ; chr14:g.30885491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885491G>C , CM000676.2:g.30885491G>C	GRCh38
NC_000014.8:g.31354697G>C , CM000676.1:g.31354697G>C	GRCh37
NC_000014.7:g.30424448G>C	NCBI36
NG_008211.2:g.15957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1026G>C	ENSP00000216361.5:p.Trp342Cys
ENST00000396618.9:c.831G>C MANE Select	ENSP00000379862.3:p.Trp277Cys
ENST00000555117.2:c.888G>C	ENSP00000493569.1:p.Trp296Cys
ENST00000643575.1:c.831G>C	ENSP00000494838.1:p.Trp277Cys
ENST00000643697.1:n.1133G>C
ENST00000644874.2:c.831G>C	ENSP00000496360.1:p.Trp277Cys
ENST00000216361.8:c.831G>C	ENSP00000216361.4:p.Trp277Cys
ENST00000396618.7:c.831G>C	ENSP00000379862.3:p.Trp277Cys
ENST00000460581.6:c.495G>C	ENSP00000451713.1:p.Trp165Cys
ENST00000468826.2:c.482G>C
ENST00000475087.5:c.831G>C	ENSP00000451528.1:p.Trp277Cys
ENST00000555881.5:c.477G>C	ENSP00000452569.1:p.Trp159Cys
ENST00000557065.1:c.613G>C	ENSP00000451629.1:n.613G>C
NM_001135058.1:c.831G>C	NP_001128530.1:p.Trp277Cys
NM_004086.2:c.831G>C	NP_004077.1:p.Trp277Cys
NR_038356.1:n.1374C>G
XM_011536539.1:c.831G>C	XP_011534841.1:p.Trp277Cys
NM_001347720.1:c.1026G>C	NP_001334649.1:p.Trp342Cys
XM_017021071.1:c.1026G>C	XP_016876560.1:p.Trp342Cys
XM_024449506.1:c.888G>C	XP_024305274.1:p.Trp296Cys
NM_004086.3:c.831G>C MANE Select	NP_004077.1:p.Trp277Cys
NM_001135058.2:c.831G>C	NP_001128530.1:p.Trp277Cys
NM_001347720.2:c.1026G>C	NP_001334649.1:p.Trp342Cys