Canonical Allele Identifier: CA389347432

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354628A>T (hg19) ; chr14:g.30885422A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885422A>T , CM000676.2:g.30885422A>T	GRCh38
NC_000014.8:g.31354628A>T , CM000676.1:g.31354628A>T	GRCh37
NC_000014.7:g.30424379A>T	NCBI36
NG_008211.2:g.15888A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.957A>T	ENSP00000216361.5:p.Lys319Asn
ENST00000396618.9:c.762A>T MANE Select	ENSP00000379862.3:p.Lys254Asn
ENST00000555117.2:c.819A>T	ENSP00000493569.1:p.Lys273Asn
ENST00000643575.1:c.762A>T	ENSP00000494838.1:p.Lys254Asn
ENST00000643697.1:n.1064A>T
ENST00000644874.2:c.762A>T	ENSP00000496360.1:p.Lys254Asn
ENST00000216361.8:c.762A>T	ENSP00000216361.4:p.Lys254Asn
ENST00000396618.7:c.762A>T	ENSP00000379862.3:p.Lys254Asn
ENST00000460581.6:c.426A>T	ENSP00000451713.1:p.Lys142Asn
ENST00000468826.2:c.413A>T
ENST00000475087.5:c.762A>T	ENSP00000451528.1:p.Lys254Asn
ENST00000555881.5:c.408A>T	ENSP00000452569.1:p.Lys136Asn
ENST00000557065.1:c.544A>T	ENSP00000451629.1:n.544A>T
NM_001135058.1:c.762A>T	NP_001128530.1:p.Lys254Asn
NM_004086.2:c.762A>T	NP_004077.1:p.Lys254Asn
NR_038356.1:n.1443T>A
XM_011536539.1:c.762A>T	XP_011534841.1:p.Lys254Asn
NM_001347720.1:c.957A>T	NP_001334649.1:p.Lys319Asn
XM_017021071.1:c.957A>T	XP_016876560.1:p.Lys319Asn
XM_024449506.1:c.819A>T	XP_024305274.1:p.Lys273Asn
NM_004086.3:c.762A>T MANE Select	NP_004077.1:p.Lys254Asn
NM_001135058.2:c.762A>T	NP_001128530.1:p.Lys254Asn
NM_001347720.2:c.957A>T	NP_001334649.1:p.Lys319Asn