Canonical Allele Identifier: CA10645147

Gene: COCH

Linked Data

• ClinVar Variation Id: 313000
• ClinVar RCV Id: RCV000318102
• dbSNP Id: rs886050442
• gnomAD v4: 14-30874549-C-T
• MyVariant Identifiers: chr14:g.31343755C>T (hg19) ; chr14:g.30874549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30874549C>T , CM000676.2:g.30874549C>T	GRCh38
NC_000014.8:g.31343755C>T , CM000676.1:g.31343755C>T	GRCh37
NC_000014.7:g.30413506C>T	NCBI36
NG_008211.2:g.5015C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.-390C>T	ENSP00000216361.5:n.-390C>T
ENST00000216361.8:c.-390C>T	ENSP00000216361.4:n.-390C>T
ENST00000555117.1:n.36C>T
NM_001135058.1:c.-390C>T	NP_001128530.1:n.-390C>T
NM_004086.2:c.-66C>T	NP_004077.1:n.-66C>T
NM_001347720.1:c.-390C>T	NP_001334649.1:n.-390C>T
XM_017021071.1:c.-66C>T	XP_016876560.1:n.-66C>T