Canonical Allele Identifier: CA7142971

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30877767C>T , CM000676.2:g.30877767C>T	GRCh38
NC_000014.8:g.31346973C>T , CM000676.1:g.31346973C>T	GRCh37
NC_000014.7:g.30416724C>T	NCBI36
NG_008211.2:g.8233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.434+39C>T	ENSP00000216361.5:n.434+39C>T
ENST00000396618.9:c.239+39C>T MANE Select	ENSP00000379862.3:n.239+39C>T
ENST00000555117.2:c.239+39C>T	ENSP00000493569.1:n.239+39C>T
ENST00000643575.1:c.239+39C>T	ENSP00000494838.1:n.239+39C>T
ENST00000643697.1:n.484+39C>T
ENST00000644874.2:c.239+39C>T	ENSP00000496360.1:n.239+39C>T
ENST00000216361.8:c.239+39C>T	ENSP00000216361.4:n.239+39C>T
ENST00000396618.7:c.239+39C>T	ENSP00000379862.3:n.239+39C>T
ENST00000460581.6:c.-98+39C>T	ENSP00000451713.1:n.-98+39C>T
ENST00000475087.5:c.239+39C>T	ENSP00000451528.1:n.239+39C>T
ENST00000553772.5:c.239+39C>T	ENSP00000452343.1:n.239+39C>T
ENST00000553833.5:n.393+39C>T
ENST00000555881.5:c.82+2664C>T	ENSP00000452569.1:n.82+2664C>T
ENST00000556908.5:c.191+39C>T	ENSP00000452541.1:n.191+39C>T
ENST00000557065.1:c.155+39C>T	ENSP00000451629.1:n.155+39C>T
NM_001135058.1:c.239+39C>T	NP_001128530.1:n.239+39C>T
NM_004086.2:c.239+39C>T	NP_004077.1:n.239+39C>T
NR_038356.1:n.1618-1215G>A
XM_011536539.1:c.239+39C>T	XP_011534841.1:n.239+39C>T
NM_001347720.1:c.434+39C>T	NP_001334649.1:n.434+39C>T
XM_017021071.1:c.434+39C>T	XP_016876560.1:n.434+39C>T
XM_024449506.1:c.239+39C>T	XP_024305274.1:n.239+39C>T
NM_004086.3:c.239+39C>T MANE Select	NP_004077.1:n.239+39C>T
NM_001135058.2:c.239+39C>T	NP_001128530.1:n.239+39C>T
NM_001347720.2:c.434+39C>T	NP_001334649.1:n.434+39C>T