Canonical Allele Identifier: CA7142987

Gene: COCH

Linked Data

• ClinVar Variation Id: 228524
• ClinVar RCV Id: RCV000220930 ; RCV002517536 ; RCV003447518
• dbSNP Id: rs540895576
• ExAC: 14:31348048 C / T
• gnomAD v2: 14-31348048-C-T
• gnomAD v3: 14-30878842-C-T
• gnomAD v4: 14-30878842-C-T
• COSMIC: COSM4805200
• MyVariant Identifiers: chr14:g.31348048C>T (hg19) ; chr14:g.30878842C>T (hg38)
• PubMed: PMID:25230692

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878842C>T , CM000676.2:g.30878842C>T	GRCh38
NC_000014.8:g.31348048C>T , CM000676.1:g.31348048C>T	GRCh37
NC_000014.7:g.30417799C>T	NCBI36
NG_008211.2:g.9308C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.466C>T	ENSP00000216361.5:p.Arg156Ter
ENST00000396618.9:c.271C>T MANE Select	ENSP00000379862.3:p.Arg91Ter
ENST00000555117.2:c.271C>T	ENSP00000493569.1:p.Arg91Ter
ENST00000643575.1:c.271C>T	ENSP00000494838.1:p.Arg91Ter
ENST00000643697.1:n.516C>T
ENST00000644874.2:c.271C>T	ENSP00000496360.1:p.Arg91Ter
ENST00000216361.8:c.271C>T	ENSP00000216361.4:p.Arg91Ter
ENST00000396618.7:c.271C>T	ENSP00000379862.3:p.Arg91Ter
ENST00000460581.6:c.-66C>T	ENSP00000451713.1:n.-66C>T
ENST00000475087.5:c.271C>T	ENSP00000451528.1:p.Arg91Ter
ENST00000553772.5:c.239+1114C>T	ENSP00000452343.1:n.239+1114C>T
ENST00000553833.5:n.425C>T
ENST00000555881.5:c.83-1610C>T	ENSP00000452569.1:n.83-1610C>T
ENST00000556908.5:c.223C>T	ENSP00000452541.1:p.Arg75Ter
ENST00000557065.1:c.156-581C>T	ENSP00000451629.1:n.156-581C>T
NM_001135058.1:c.271C>T	NP_001128530.1:p.Arg91Ter
NM_004086.2:c.271C>T	NP_004077.1:p.Arg91Ter
NR_038356.1:n.1618-2290G>A
XM_011536539.1:c.271C>T	XP_011534841.1:p.Arg91Ter
NM_001347720.1:c.466C>T	NP_001334649.1:p.Arg156Ter
XM_017021071.1:c.466C>T	XP_016876560.1:p.Arg156Ter
XM_024449506.1:c.271C>T	XP_024305274.1:p.Arg91Ter
NM_004086.3:c.271C>T MANE Select	NP_004077.1:p.Arg91Ter
NM_001135058.2:c.271C>T	NP_001128530.1:p.Arg91Ter
NM_001347720.2:c.466C>T	NP_001334649.1:p.Arg156Ter