Canonical Allele Identifier: CA389347368

Gene: COCH

Linked Data

• gnomAD v4: 14-30885406-A-C
• MyVariant Identifiers: chr14:g.31354612A>C (hg19) ; chr14:g.30885406A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885406A>C , CM000676.2:g.30885406A>C	GRCh38
NC_000014.8:g.31354612A>C , CM000676.1:g.31354612A>C	GRCh37
NC_000014.7:g.30424363A>C	NCBI36
NG_008211.2:g.15872A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.941A>C	ENSP00000216361.5:p.Lys314Thr
ENST00000396618.9:c.746A>C MANE Select	ENSP00000379862.3:p.Lys249Thr
ENST00000555117.2:c.803A>C	ENSP00000493569.1:p.Lys268Thr
ENST00000643575.1:c.746A>C	ENSP00000494838.1:p.Lys249Thr
ENST00000643697.1:n.1048A>C
ENST00000644874.2:c.746A>C	ENSP00000496360.1:p.Lys249Thr
ENST00000216361.8:c.746A>C	ENSP00000216361.4:p.Lys249Thr
ENST00000396618.7:c.746A>C	ENSP00000379862.3:p.Lys249Thr
ENST00000460581.6:c.410A>C	ENSP00000451713.1:p.Lys137Thr
ENST00000468826.2:c.397A>C
ENST00000475087.5:c.746A>C	ENSP00000451528.1:p.Lys249Thr
ENST00000555881.5:c.392A>C	ENSP00000452569.1:p.Lys131Thr
ENST00000557065.1:c.528A>C	ENSP00000451629.1:n.528A>C
NM_001135058.1:c.746A>C	NP_001128530.1:p.Lys249Thr
NM_004086.2:c.746A>C	NP_004077.1:p.Lys249Thr
NR_038356.1:n.1452+7T>G
XM_011536539.1:c.746A>C	XP_011534841.1:p.Lys249Thr
NM_001347720.1:c.941A>C	NP_001334649.1:p.Lys314Thr
XM_017021071.1:c.941A>C	XP_016876560.1:p.Lys314Thr
XM_024449506.1:c.803A>C	XP_024305274.1:p.Lys268Thr
NM_004086.3:c.746A>C MANE Select	NP_004077.1:p.Lys249Thr
NM_001135058.2:c.746A>C	NP_001128530.1:p.Lys249Thr
NM_001347720.2:c.941A>C	NP_001334649.1:p.Lys314Thr