Canonical Allele Identifier: CA389347396

Gene: COCH

Linked Data

• dbSNP Id: rs1416225513
• gnomAD v2: 14-31354618-C-T
• gnomAD v3: 14-30885412-C-T
• gnomAD v4: 14-30885412-C-T
• MyVariant Identifiers: chr14:g.31354618C>T (hg19) ; chr14:g.30885412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885412C>T , CM000676.2:g.30885412C>T	GRCh38
NC_000014.8:g.31354618C>T , CM000676.1:g.31354618C>T	GRCh37
NC_000014.7:g.30424369C>T	NCBI36
NG_008211.2:g.15878C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.947C>T	ENSP00000216361.5:p.Thr316Ile
ENST00000396618.9:c.752C>T MANE Select	ENSP00000379862.3:p.Thr251Ile
ENST00000555117.2:c.809C>T	ENSP00000493569.1:p.Thr270Ile
ENST00000643575.1:c.752C>T	ENSP00000494838.1:p.Thr251Ile
ENST00000643697.1:n.1054C>T
ENST00000644874.2:c.752C>T	ENSP00000496360.1:p.Thr251Ile
ENST00000216361.8:c.752C>T	ENSP00000216361.4:p.Thr251Ile
ENST00000396618.7:c.752C>T	ENSP00000379862.3:p.Thr251Ile
ENST00000460581.6:c.416C>T	ENSP00000451713.1:p.Thr139Ile
ENST00000468826.2:c.403C>T
ENST00000475087.5:c.752C>T	ENSP00000451528.1:p.Thr251Ile
ENST00000555881.5:c.398C>T	ENSP00000452569.1:p.Thr133Ile
ENST00000557065.1:c.534C>T	ENSP00000451629.1:n.534C>T
NM_001135058.1:c.752C>T	NP_001128530.1:p.Thr251Ile
NM_004086.2:c.752C>T	NP_004077.1:p.Thr251Ile
NR_038356.1:n.1452+1G>A
XM_011536539.1:c.752C>T	XP_011534841.1:p.Thr251Ile
NM_001347720.1:c.947C>T	NP_001334649.1:p.Thr316Ile
XM_017021071.1:c.947C>T	XP_016876560.1:p.Thr316Ile
XM_024449506.1:c.809C>T	XP_024305274.1:p.Thr270Ile
NM_004086.3:c.752C>T MANE Select	NP_004077.1:p.Thr251Ile
NM_001135058.2:c.752C>T	NP_001128530.1:p.Thr251Ile
NM_001347720.2:c.947C>T	NP_001334649.1:p.Thr316Ile