Canonical Allele Identifier: CA389347636

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354686A>T (hg19) ; chr14:g.30885480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885480A>T , CM000676.2:g.30885480A>T	GRCh38
NC_000014.8:g.31354686A>T , CM000676.1:g.31354686A>T	GRCh37
NC_000014.7:g.30424437A>T	NCBI36
NG_008211.2:g.15946A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1015A>T	ENSP00000216361.5:p.Ile339Phe
ENST00000396618.9:c.820A>T MANE Select	ENSP00000379862.3:p.Ile274Phe
ENST00000555117.2:c.877A>T	ENSP00000493569.1:p.Ile293Phe
ENST00000643575.1:c.820A>T	ENSP00000494838.1:p.Ile274Phe
ENST00000643697.1:n.1122A>T
ENST00000644874.2:c.820A>T	ENSP00000496360.1:p.Ile274Phe
ENST00000216361.8:c.820A>T	ENSP00000216361.4:p.Ile274Phe
ENST00000396618.7:c.820A>T	ENSP00000379862.3:p.Ile274Phe
ENST00000460581.6:c.484A>T	ENSP00000451713.1:p.Ile162Phe
ENST00000468826.2:c.471A>T
ENST00000475087.5:c.820A>T	ENSP00000451528.1:p.Ile274Phe
ENST00000555881.5:c.466A>T	ENSP00000452569.1:p.Ile156Phe
ENST00000557065.1:c.602A>T	ENSP00000451629.1:n.602A>T
NM_001135058.1:c.820A>T	NP_001128530.1:p.Ile274Phe
NM_004086.2:c.820A>T	NP_004077.1:p.Ile274Phe
NR_038356.1:n.1385T>A
XM_011536539.1:c.820A>T	XP_011534841.1:p.Ile274Phe
NM_001347720.1:c.1015A>T	NP_001334649.1:p.Ile339Phe
XM_017021071.1:c.1015A>T	XP_016876560.1:p.Ile339Phe
XM_024449506.1:c.877A>T	XP_024305274.1:p.Ile293Phe
NM_004086.3:c.820A>T MANE Select	NP_004077.1:p.Ile274Phe
NM_001135058.2:c.820A>T	NP_001128530.1:p.Ile274Phe
NM_001347720.2:c.1015A>T	NP_001334649.1:p.Ile339Phe