Canonical Allele Identifier: CA2126950494

Gene: COCH

Linked Data

• dbSNP Id: rs1895461599
• gnomAD v4: 14-30878735-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878735C>A , CM000676.2:g.30878735C>A	GRCh38
NC_000014.8:g.31347941C>A , CM000676.1:g.31347941C>A	GRCh37
NC_000014.7:g.30417692C>A	NCBI36
NG_008211.2:g.9201C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.435-76C>A	ENSP00000216361.5:n.435-76C>A
ENST00000396618.9:c.240-76C>A MANE Select	ENSP00000379862.3:n.240-76C>A
ENST00000555117.2:c.240-76C>A	ENSP00000493569.1:n.240-76C>A
ENST00000643575.1:c.240-76C>A	ENSP00000494838.1:n.240-76C>A
ENST00000643697.1:n.485-76C>A
ENST00000644874.2:c.240-76C>A	ENSP00000496360.1:n.240-76C>A
ENST00000216361.8:c.240-76C>A	ENSP00000216361.4:n.240-76C>A
ENST00000396618.7:c.240-76C>A	ENSP00000379862.3:n.240-76C>A
ENST00000460581.6:c.-97-76C>A	ENSP00000451713.1:n.-97-76C>A
ENST00000475087.5:c.240-76C>A	ENSP00000451528.1:n.240-76C>A
ENST00000553772.5:c.239+1007C>A	ENSP00000452343.1:n.239+1007C>A
ENST00000553833.5:n.394-76C>A
ENST00000555881.5:c.83-1717C>A	ENSP00000452569.1:n.83-1717C>A
ENST00000556908.5:c.192-76C>A	ENSP00000452541.1:n.192-76C>A
ENST00000557065.1:c.156-688C>A	ENSP00000451629.1:n.156-688C>A
NM_001135058.1:c.240-76C>A	NP_001128530.1:n.240-76C>A
NM_004086.2:c.240-76C>A	NP_004077.1:n.240-76C>A
NR_038356.1:n.1618-2183G>T
XM_011536539.1:c.240-76C>A	XP_011534841.1:n.240-76C>A
NM_001347720.1:c.435-76C>A	NP_001334649.1:n.435-76C>A
XM_017021071.1:c.435-76C>A	XP_016876560.1:n.435-76C>A
XM_024449506.1:c.240-76C>A	XP_024305274.1:n.240-76C>A
NM_004086.3:c.240-76C>A MANE Select	NP_004077.1:n.240-76C>A
NM_001135058.2:c.240-76C>A	NP_001128530.1:n.240-76C>A
NM_001347720.2:c.435-76C>A	NP_001334649.1:n.435-76C>A