Canonical Allele Identifier: CA389347375

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354613G>C (hg19) ; chr14:g.30885407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885407G>C , CM000676.2:g.30885407G>C	GRCh38
NC_000014.8:g.31354613G>C , CM000676.1:g.31354613G>C	GRCh37
NC_000014.7:g.30424364G>C	NCBI36
NG_008211.2:g.15873G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.942G>C	ENSP00000216361.5:p.Lys314Asn
ENST00000396618.9:c.747G>C MANE Select	ENSP00000379862.3:p.Lys249Asn
ENST00000555117.2:c.804G>C	ENSP00000493569.1:p.Lys268Asn
ENST00000643575.1:c.747G>C	ENSP00000494838.1:p.Lys249Asn
ENST00000643697.1:n.1049G>C
ENST00000644874.2:c.747G>C	ENSP00000496360.1:p.Lys249Asn
ENST00000216361.8:c.747G>C	ENSP00000216361.4:p.Lys249Asn
ENST00000396618.7:c.747G>C	ENSP00000379862.3:p.Lys249Asn
ENST00000460581.6:c.411G>C	ENSP00000451713.1:p.Lys137Asn
ENST00000468826.2:c.398G>C
ENST00000475087.5:c.747G>C	ENSP00000451528.1:p.Lys249Asn
ENST00000555881.5:c.393G>C	ENSP00000452569.1:p.Lys131Asn
ENST00000557065.1:c.529G>C	ENSP00000451629.1:n.529G>C
NM_001135058.1:c.747G>C	NP_001128530.1:p.Lys249Asn
NM_004086.2:c.747G>C	NP_004077.1:p.Lys249Asn
NR_038356.1:n.1452+6C>G
XM_011536539.1:c.747G>C	XP_011534841.1:p.Lys249Asn
NM_001347720.1:c.942G>C	NP_001334649.1:p.Lys314Asn
XM_017021071.1:c.942G>C	XP_016876560.1:p.Lys314Asn
XM_024449506.1:c.804G>C	XP_024305274.1:p.Lys268Asn
NM_004086.3:c.747G>C MANE Select	NP_004077.1:p.Lys249Asn
NM_001135058.2:c.747G>C	NP_001128530.1:p.Lys249Asn
NM_001347720.2:c.942G>C	NP_001334649.1:p.Lys314Asn