Canonical Allele Identifier: CA389347488

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354643T>A (hg19) ; chr14:g.30885437T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885437T>A , CM000676.2:g.30885437T>A	GRCh38
NC_000014.8:g.31354643T>A , CM000676.1:g.31354643T>A	GRCh37
NC_000014.7:g.30424394T>A	NCBI36
NG_008211.2:g.15903T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.972T>A	ENSP00000216361.5:p.Asp324Glu
ENST00000396618.9:c.777T>A MANE Select	ENSP00000379862.3:p.Asp259Glu
ENST00000555117.2:c.834T>A	ENSP00000493569.1:p.Asp278Glu
ENST00000643575.1:c.777T>A	ENSP00000494838.1:p.Asp259Glu
ENST00000643697.1:n.1079T>A
ENST00000644874.2:c.777T>A	ENSP00000496360.1:p.Asp259Glu
ENST00000216361.8:c.777T>A	ENSP00000216361.4:p.Asp259Glu
ENST00000396618.7:c.777T>A	ENSP00000379862.3:p.Asp259Glu
ENST00000460581.6:c.441T>A	ENSP00000451713.1:p.Asp147Glu
ENST00000468826.2:c.428T>A
ENST00000475087.5:c.777T>A	ENSP00000451528.1:p.Asp259Glu
ENST00000555881.5:c.423T>A	ENSP00000452569.1:p.Asp141Glu
ENST00000557065.1:c.559T>A	ENSP00000451629.1:n.559T>A
NM_001135058.1:c.777T>A	NP_001128530.1:p.Asp259Glu
NM_004086.2:c.777T>A	NP_004077.1:p.Asp259Glu
NR_038356.1:n.1428A>T
XM_011536539.1:c.777T>A	XP_011534841.1:p.Asp259Glu
NM_001347720.1:c.972T>A	NP_001334649.1:p.Asp324Glu
XM_017021071.1:c.972T>A	XP_016876560.1:p.Asp324Glu
XM_024449506.1:c.834T>A	XP_024305274.1:p.Asp278Glu
NM_004086.3:c.777T>A MANE Select	NP_004077.1:p.Asp259Glu
NM_001135058.2:c.777T>A	NP_001128530.1:p.Asp259Glu
NM_001347720.2:c.972T>A	NP_001334649.1:p.Asp324Glu