Canonical Allele Identifier: CA485828945

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31348041A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878835A>C , CM000676.2:g.30878835A>C	GRCh38
NC_000014.8:g.31348041A>C , CM000676.1:g.31348041A>C	GRCh37
NC_000014.7:g.30417792A>C	NCBI36
NG_008211.2:g.9301A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.459A>C	ENSP00000216361.5:p.Gly153=
ENST00000396618.9:c.264A>C MANE Select	ENSP00000379862.3:p.Gly88=
ENST00000555117.2:c.264A>C	ENSP00000493569.1:p.Gly88=
ENST00000643575.1:c.264A>C	ENSP00000494838.1:p.Gly88=
ENST00000643697.1:n.509A>C
ENST00000644874.2:c.264A>C	ENSP00000496360.1:p.Gly88=
ENST00000216361.8:c.264A>C	ENSP00000216361.4:p.Gly88=
ENST00000396618.7:c.264A>C	ENSP00000379862.3:p.Gly88=
ENST00000460581.6:c.-73A>C	ENSP00000451713.1:n.-73A>C
ENST00000475087.5:c.264A>C	ENSP00000451528.1:p.Gly88=
ENST00000553772.5:c.239+1107A>C	ENSP00000452343.1:n.239+1107A>C
ENST00000553833.5:n.418A>C
ENST00000555881.5:c.83-1617A>C	ENSP00000452569.1:n.83-1617A>C
ENST00000556908.5:c.216A>C	ENSP00000452541.1:p.Gly72=
ENST00000557065.1:c.156-588A>C	ENSP00000451629.1:n.156-588A>C
NM_001135058.1:c.264A>C	NP_001128530.1:p.Gly88=
NM_004086.2:c.264A>C	NP_004077.1:p.Gly88=
NR_038356.1:n.1618-2283T>G
XM_011536539.1:c.264A>C	XP_011534841.1:p.Gly88=
NM_001347720.1:c.459A>C	NP_001334649.1:p.Gly153=
XM_017021071.1:c.459A>C	XP_016876560.1:p.Gly153=
XM_024449506.1:c.264A>C	XP_024305274.1:p.Gly88=
NM_004086.3:c.264A>C MANE Select	NP_004077.1:p.Gly88=
NM_001135058.2:c.264A>C	NP_001128530.1:p.Gly88=
NM_001347720.2:c.459A>C	NP_001334649.1:p.Gly153=