Canonical Allele Identifier: CA7143203

Gene: COCH

Linked Data

• ClinVar Variation Id: 1207717
• ClinVar RCV Id: RCV001575805
• dbSNP Id: rs368609319
• ExAC: 14:31354712 C / T
• gnomAD v2: 14-31354712-C-T
• gnomAD v3: 14-30885506-C-T
• gnomAD v4: 14-30885506-C-T
• COSMIC: COSM955214
• MyVariant Identifiers: chr14:g.31354712C>T (hg19) ; chr14:g.30885506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885506C>T , CM000676.2:g.30885506C>T	GRCh38
NC_000014.8:g.31354712C>T , CM000676.1:g.31354712C>T	GRCh37
NC_000014.7:g.30424463C>T	NCBI36
NG_008211.2:g.15972C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1041C>T	ENSP00000216361.5:p.Ile347=
ENST00000396618.9:c.846C>T MANE Select	ENSP00000379862.3:p.Ile282=
ENST00000555117.2:c.903C>T	ENSP00000493569.1:p.Ile301=
ENST00000643575.1:c.846C>T	ENSP00000494838.1:p.Ile282=
ENST00000643697.1:n.1148C>T
ENST00000644874.2:c.846C>T	ENSP00000496360.1:p.Ile282=
ENST00000216361.8:c.846C>T	ENSP00000216361.4:p.Ile282=
ENST00000396618.7:c.846C>T	ENSP00000379862.3:p.Ile282=
ENST00000460581.6:c.510C>T	ENSP00000451713.1:p.Ile170=
ENST00000468826.2:c.497C>T
ENST00000475087.5:c.846C>T	ENSP00000451528.1:p.Ile282=
ENST00000555881.5:c.492C>T	ENSP00000452569.1:p.Ile164=
ENST00000557065.1:c.628C>T	ENSP00000451629.1:n.628C>T
NM_001135058.1:c.846C>T	NP_001128530.1:p.Ile282=
NM_004086.2:c.846C>T	NP_004077.1:p.Ile282=
NR_038356.1:n.1359G>A
XM_011536539.1:c.846C>T	XP_011534841.1:p.Ile282=
NM_001347720.1:c.1041C>T	NP_001334649.1:p.Ile347=
XM_017021071.1:c.1041C>T	XP_016876560.1:p.Ile347=
XM_024449506.1:c.903C>T	XP_024305274.1:p.Ile301=
NM_004086.3:c.846C>T MANE Select	NP_004077.1:p.Ile282=
NM_001135058.2:c.846C>T	NP_001128530.1:p.Ile282=
NM_001347720.2:c.1041C>T	NP_001334649.1:p.Ile347=