Canonical Allele Identifier: CA389348608

Gene: COCH

Linked Data

• ClinVar Variation Id: 2034858
• ClinVar RCV Id: RCV002889746
• MyVariant Identifiers: chr14:g.31355291C>A (hg19) ; chr14:g.30886085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30886085C>A , CM000676.2:g.30886085C>A	GRCh38
NC_000014.8:g.31355291C>A , CM000676.1:g.31355291C>A	GRCh37
NC_000014.7:g.30425042C>A	NCBI36
NG_008211.2:g.16551C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1445C>A	ENSP00000216361.5:p.Thr482Lys
ENST00000396618.9:c.1250C>A MANE Select	ENSP00000379862.3:p.Thr417Lys
ENST00000555117.2:c.1307C>A	ENSP00000493569.1:p.Thr436Lys
ENST00000643575.1:c.1250C>A	ENSP00000494838.1:p.Thr417Lys
ENST00000643697.1:n.1552C>A
ENST00000644874.2:c.1250C>A	ENSP00000496360.1:p.Thr417Lys
ENST00000216361.8:c.1250C>A	ENSP00000216361.4:p.Thr417Lys
ENST00000396618.7:c.1250C>A	ENSP00000379862.3:p.Thr417Lys
ENST00000460581.6:c.914C>A	ENSP00000451713.1:p.Thr305Lys
ENST00000468826.2:c.901C>A
ENST00000475087.5:c.1250C>A	ENSP00000451528.1:p.Thr417Lys
NM_001135058.1:c.1250C>A	NP_001128530.1:p.Thr417Lys
NM_004086.2:c.1250C>A	NP_004077.1:p.Thr417Lys
NR_038356.1:n.780G>T
XM_011536539.1:c.1250C>A	XP_011534841.1:p.Thr417Lys
NM_001347720.1:c.1445C>A	NP_001334649.1:p.Thr482Lys
XM_017021071.1:c.1445C>A	XP_016876560.1:p.Thr482Lys
XM_024449506.1:c.1307C>A	XP_024305274.1:p.Thr436Lys
NM_004086.3:c.1250C>A MANE Select	NP_004077.1:p.Thr417Lys
NM_001135058.2:c.1250C>A	NP_001128530.1:p.Thr417Lys
NM_001347720.2:c.1445C>A	NP_001334649.1:p.Thr482Lys