Canonical Allele Identifier: CA485832191

Gene: COCH

Linked Data

• gnomAD v4: 14-30885401-C-T
• MyVariant Identifiers: chr14:g.31354607C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885401C>T , CM000676.2:g.30885401C>T	GRCh38
NC_000014.8:g.31354607C>T , CM000676.1:g.31354607C>T	GRCh37
NC_000014.7:g.30424358C>T	NCBI36
NG_008211.2:g.15867C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.936C>T	ENSP00000216361.5:p.Ala312=
ENST00000396618.9:c.741C>T MANE Select	ENSP00000379862.3:p.Ala247=
ENST00000555117.2:c.798C>T	ENSP00000493569.1:p.Ala266=
ENST00000643575.1:c.741C>T	ENSP00000494838.1:p.Ala247=
ENST00000643697.1:n.1043C>T
ENST00000644874.2:c.741C>T	ENSP00000496360.1:p.Ala247=
ENST00000216361.8:c.741C>T	ENSP00000216361.4:p.Ala247=
ENST00000396618.7:c.741C>T	ENSP00000379862.3:p.Ala247=
ENST00000460581.6:c.405C>T	ENSP00000451713.1:p.Ala135=
ENST00000468826.2:c.392C>T
ENST00000475087.5:c.741C>T	ENSP00000451528.1:p.Ala247=
ENST00000555881.5:c.387C>T	ENSP00000452569.1:p.Ala129=
ENST00000557065.1:c.523C>T	ENSP00000451629.1:n.523C>T
NM_001135058.1:c.741C>T	NP_001128530.1:p.Ala247=
NM_004086.2:c.741C>T	NP_004077.1:p.Ala247=
NR_038356.1:n.1452+12G>A
XM_011536539.1:c.741C>T	XP_011534841.1:p.Ala247=
NM_001347720.1:c.936C>T	NP_001334649.1:p.Ala312=
XM_017021071.1:c.936C>T	XP_016876560.1:p.Ala312=
XM_024449506.1:c.798C>T	XP_024305274.1:p.Ala266=
NM_004086.3:c.741C>T MANE Select	NP_004077.1:p.Ala247=
NM_001135058.2:c.741C>T	NP_001128530.1:p.Ala247=
NM_001347720.2:c.936C>T	NP_001334649.1:p.Ala312=