Canonical Allele Identifier: CA389347648

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354690A>C (hg19) ; chr14:g.30885484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885484A>C , CM000676.2:g.30885484A>C	GRCh38
NC_000014.8:g.31354690A>C , CM000676.1:g.31354690A>C	GRCh37
NC_000014.7:g.30424441A>C	NCBI36
NG_008211.2:g.15950A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1019A>C	ENSP00000216361.5:p.Asp340Ala
ENST00000396618.9:c.824A>C MANE Select	ENSP00000379862.3:p.Asp275Ala
ENST00000555117.2:c.881A>C	ENSP00000493569.1:p.Asp294Ala
ENST00000643575.1:c.824A>C	ENSP00000494838.1:p.Asp275Ala
ENST00000643697.1:n.1126A>C
ENST00000644874.2:c.824A>C	ENSP00000496360.1:p.Asp275Ala
ENST00000216361.8:c.824A>C	ENSP00000216361.4:p.Asp275Ala
ENST00000396618.7:c.824A>C	ENSP00000379862.3:p.Asp275Ala
ENST00000460581.6:c.488A>C	ENSP00000451713.1:p.Asp163Ala
ENST00000468826.2:c.475A>C
ENST00000475087.5:c.824A>C	ENSP00000451528.1:p.Asp275Ala
ENST00000555881.5:c.470A>C	ENSP00000452569.1:p.Asp157Ala
ENST00000557065.1:c.606A>C	ENSP00000451629.1:n.606A>C
NM_001135058.1:c.824A>C	NP_001128530.1:p.Asp275Ala
NM_004086.2:c.824A>C	NP_004077.1:p.Asp275Ala
NR_038356.1:n.1381T>G
XM_011536539.1:c.824A>C	XP_011534841.1:p.Asp275Ala
NM_001347720.1:c.1019A>C	NP_001334649.1:p.Asp340Ala
XM_017021071.1:c.1019A>C	XP_016876560.1:p.Asp340Ala
XM_024449506.1:c.881A>C	XP_024305274.1:p.Asp294Ala
NM_004086.3:c.824A>C MANE Select	NP_004077.1:p.Asp275Ala
NM_001135058.2:c.824A>C	NP_001128530.1:p.Asp275Ala
NM_001347720.2:c.1019A>C	NP_001334649.1:p.Asp340Ala