Canonical Allele Identifier: CA485832238

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354652A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885446A>C , CM000676.2:g.30885446A>C	GRCh38
NC_000014.8:g.31354652A>C , CM000676.1:g.31354652A>C	GRCh37
NC_000014.7:g.30424403A>C	NCBI36
NG_008211.2:g.15912A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.981A>C	ENSP00000216361.5:p.Val327=
ENST00000396618.9:c.786A>C MANE Select	ENSP00000379862.3:p.Val262=
ENST00000555117.2:c.843A>C	ENSP00000493569.1:p.Val281=
ENST00000643575.1:c.786A>C	ENSP00000494838.1:p.Val262=
ENST00000643697.1:n.1088A>C
ENST00000644874.2:c.786A>C	ENSP00000496360.1:p.Val262=
ENST00000216361.8:c.786A>C	ENSP00000216361.4:p.Val262=
ENST00000396618.7:c.786A>C	ENSP00000379862.3:p.Val262=
ENST00000460581.6:c.450A>C	ENSP00000451713.1:p.Val150=
ENST00000468826.2:c.437A>C
ENST00000475087.5:c.786A>C	ENSP00000451528.1:p.Val262=
ENST00000555881.5:c.432A>C	ENSP00000452569.1:p.Val144=
ENST00000557065.1:c.568A>C	ENSP00000451629.1:n.568A>C
NM_001135058.1:c.786A>C	NP_001128530.1:p.Val262=
NM_004086.2:c.786A>C	NP_004077.1:p.Val262=
NR_038356.1:n.1419T>G
XM_011536539.1:c.786A>C	XP_011534841.1:p.Val262=
NM_001347720.1:c.981A>C	NP_001334649.1:p.Val327=
XM_017021071.1:c.981A>C	XP_016876560.1:p.Val327=
XM_024449506.1:c.843A>C	XP_024305274.1:p.Val281=
NM_004086.3:c.786A>C MANE Select	NP_004077.1:p.Val262=
NM_001135058.2:c.786A>C	NP_001128530.1:p.Val262=
NM_001347720.2:c.981A>C	NP_001334649.1:p.Val327=