Canonical Allele Identifier: CA485828872

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31348029C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878823C>T , CM000676.2:g.30878823C>T	GRCh38
NC_000014.8:g.31348029C>T , CM000676.1:g.31348029C>T	GRCh37
NC_000014.7:g.30417780C>T	NCBI36
NG_008211.2:g.9289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.447C>T	ENSP00000216361.5:p.Ser149=
ENST00000396618.9:c.252C>T MANE Select	ENSP00000379862.3:p.Ser84=
ENST00000555117.2:c.252C>T	ENSP00000493569.1:p.Ser84=
ENST00000643575.1:c.252C>T	ENSP00000494838.1:p.Ser84=
ENST00000643697.1:n.497C>T
ENST00000644874.2:c.252C>T	ENSP00000496360.1:p.Ser84=
ENST00000216361.8:c.252C>T	ENSP00000216361.4:p.Ser84=
ENST00000396618.7:c.252C>T	ENSP00000379862.3:p.Ser84=
ENST00000460581.6:c.-85C>T	ENSP00000451713.1:n.-85C>T
ENST00000475087.5:c.252C>T	ENSP00000451528.1:p.Ser84=
ENST00000553772.5:c.239+1095C>T	ENSP00000452343.1:n.239+1095C>T
ENST00000553833.5:n.406C>T
ENST00000555881.5:c.83-1629C>T	ENSP00000452569.1:n.83-1629C>T
ENST00000556908.5:c.204C>T	ENSP00000452541.1:p.Ser68=
ENST00000557065.1:c.156-600C>T	ENSP00000451629.1:n.156-600C>T
NM_001135058.1:c.252C>T	NP_001128530.1:p.Ser84=
NM_004086.2:c.252C>T	NP_004077.1:p.Ser84=
NR_038356.1:n.1618-2271G>A
XM_011536539.1:c.252C>T	XP_011534841.1:p.Ser84=
NM_001347720.1:c.447C>T	NP_001334649.1:p.Ser149=
XM_017021071.1:c.447C>T	XP_016876560.1:p.Ser149=
XM_024449506.1:c.252C>T	XP_024305274.1:p.Ser84=
NM_004086.3:c.252C>T MANE Select	NP_004077.1:p.Ser84=
NM_001135058.2:c.252C>T	NP_001128530.1:p.Ser84=
NM_001347720.2:c.447C>T	NP_001334649.1:p.Ser149=