Canonical Allele Identifier: CA389347973

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31355005G>T (hg19) ; chr14:g.30885799G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885799G>T , CM000676.2:g.30885799G>T	GRCh38
NC_000014.8:g.31355005G>T , CM000676.1:g.31355005G>T	GRCh37
NC_000014.7:g.30424756G>T	NCBI36
NG_008211.2:g.16265G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1159G>T	ENSP00000216361.5:p.Val387Phe
ENST00000396618.9:c.964G>T MANE Select	ENSP00000379862.3:p.Val322Phe
ENST00000555117.2:c.1021G>T	ENSP00000493569.1:p.Val341Phe
ENST00000643575.1:c.964G>T	ENSP00000494838.1:p.Val322Phe
ENST00000643697.1:n.1266G>T
ENST00000644874.2:c.964G>T	ENSP00000496360.1:p.Val322Phe
ENST00000216361.8:c.964G>T	ENSP00000216361.4:p.Val322Phe
ENST00000396618.7:c.964G>T	ENSP00000379862.3:p.Val322Phe
ENST00000460581.6:c.628G>T	ENSP00000451713.1:p.Val210Phe
ENST00000468826.2:c.615G>T
ENST00000475087.5:c.964G>T	ENSP00000451528.1:p.Val322Phe
NM_001135058.1:c.964G>T	NP_001128530.1:p.Val322Phe
NM_004086.2:c.964G>T	NP_004077.1:p.Val322Phe
NR_038356.1:n.1066C>A
XM_011536539.1:c.964G>T	XP_011534841.1:p.Val322Phe
NM_001347720.1:c.1159G>T	NP_001334649.1:p.Val387Phe
XM_017021071.1:c.1159G>T	XP_016876560.1:p.Val387Phe
XM_024449506.1:c.1021G>T	XP_024305274.1:p.Val341Phe
NM_004086.3:c.964G>T MANE Select	NP_004077.1:p.Val322Phe
NM_001135058.2:c.964G>T	NP_001128530.1:p.Val322Phe
NM_001347720.2:c.1159G>T	NP_001334649.1:p.Val387Phe