Canonical Allele Identifier: CA389344577

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31348057A>T (hg19) ; chr14:g.30878851A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878851A>T , CM000676.2:g.30878851A>T	GRCh38
NC_000014.8:g.31348057A>T , CM000676.1:g.31348057A>T	GRCh37
NC_000014.7:g.30417808A>T	NCBI36
NG_008211.2:g.9317A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.475A>T	ENSP00000216361.5:p.Ser159Cys
ENST00000396618.9:c.280A>T MANE Select	ENSP00000379862.3:p.Ser94Cys
ENST00000555117.2:c.280A>T	ENSP00000493569.1:p.Ser94Cys
ENST00000643575.1:c.280A>T	ENSP00000494838.1:p.Ser94Cys
ENST00000643697.1:n.525A>T
ENST00000644874.2:c.280A>T	ENSP00000496360.1:p.Ser94Cys
ENST00000216361.8:c.280A>T	ENSP00000216361.4:p.Ser94Cys
ENST00000396618.7:c.280A>T	ENSP00000379862.3:p.Ser94Cys
ENST00000460581.6:c.-57A>T	ENSP00000451713.1:n.-57A>T
ENST00000475087.5:c.280A>T	ENSP00000451528.1:p.Ser94Cys
ENST00000553772.5:c.239+1123A>T	ENSP00000452343.1:n.239+1123A>T
ENST00000553833.5:n.434A>T
ENST00000555881.5:c.83-1601A>T	ENSP00000452569.1:n.83-1601A>T
ENST00000556908.5:c.232A>T	ENSP00000452541.1:p.Ser78Cys
ENST00000557065.1:c.156-572A>T	ENSP00000451629.1:n.156-572A>T
NM_001135058.1:c.280A>T	NP_001128530.1:p.Ser94Cys
NM_004086.2:c.280A>T	NP_004077.1:p.Ser94Cys
NR_038356.1:n.1618-2299T>A
XM_011536539.1:c.280A>T	XP_011534841.1:p.Ser94Cys
NM_001347720.1:c.475A>T	NP_001334649.1:p.Ser159Cys
XM_017021071.1:c.475A>T	XP_016876560.1:p.Ser159Cys
XM_024449506.1:c.280A>T	XP_024305274.1:p.Ser94Cys
NM_004086.3:c.280A>T MANE Select	NP_004077.1:p.Ser94Cys
NM_001135058.2:c.280A>T	NP_001128530.1:p.Ser94Cys
NM_001347720.2:c.475A>T	NP_001334649.1:p.Ser159Cys