Canonical Allele Identifier: CA7143194

Gene: COCH

Linked Data

• ClinVar Variation Id: 504561
• ClinVar RCV Id: RCV000609486 ; RCV003718258
• dbSNP Id: rs375612298
• ExAC: 14:31354652 A / G
• gnomAD v2: 14-31354652-A-G
• gnomAD v3: 14-30885446-A-G
• gnomAD v4: 14-30885446-A-G
• MyVariant Identifiers: chr14:g.31354652A>G (hg19) ; chr14:g.30885446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885446A>G , CM000676.2:g.30885446A>G	GRCh38
NC_000014.8:g.31354652A>G , CM000676.1:g.31354652A>G	GRCh37
NC_000014.7:g.30424403A>G	NCBI36
NG_008211.2:g.15912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.981A>G	ENSP00000216361.5:p.Val327=
ENST00000396618.9:c.786A>G MANE Select	ENSP00000379862.3:p.Val262=
ENST00000555117.2:c.843A>G	ENSP00000493569.1:p.Val281=
ENST00000643575.1:c.786A>G	ENSP00000494838.1:p.Val262=
ENST00000643697.1:n.1088A>G
ENST00000644874.2:c.786A>G	ENSP00000496360.1:p.Val262=
ENST00000216361.8:c.786A>G	ENSP00000216361.4:p.Val262=
ENST00000396618.7:c.786A>G	ENSP00000379862.3:p.Val262=
ENST00000460581.6:c.450A>G	ENSP00000451713.1:p.Val150=
ENST00000468826.2:c.437A>G
ENST00000475087.5:c.786A>G	ENSP00000451528.1:p.Val262=
ENST00000555881.5:c.432A>G	ENSP00000452569.1:p.Val144=
ENST00000557065.1:c.568A>G	ENSP00000451629.1:n.568A>G
NM_001135058.1:c.786A>G	NP_001128530.1:p.Val262=
NM_004086.2:c.786A>G	NP_004077.1:p.Val262=
NR_038356.1:n.1419T>C
XM_011536539.1:c.786A>G	XP_011534841.1:p.Val262=
NM_001347720.1:c.981A>G	NP_001334649.1:p.Val327=
XM_017021071.1:c.981A>G	XP_016876560.1:p.Val327=
XM_024449506.1:c.843A>G	XP_024305274.1:p.Val281=
NM_004086.3:c.786A>G MANE Select	NP_004077.1:p.Val262=
NM_001135058.2:c.786A>G	NP_001128530.1:p.Val262=
NM_001347720.2:c.981A>G	NP_001334649.1:p.Val327=