Canonical Allele Identifier: CA258541191

Gene: COCH

Linked Data

• ClinVar Variation Id: 1305492
• ClinVar RCV Id: RCV001768699
• dbSNP Id: rs772383772
• gnomAD v2: 14-31355288-G-A
• gnomAD v3: 14-30886082-G-A
• gnomAD v4: 14-30886082-G-A
• MyVariant Identifiers: chr14:g.31355288G>A (hg19) ; chr14:g.30886082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30886082G>A , CM000676.2:g.30886082G>A	GRCh38
NC_000014.8:g.31355288G>A , CM000676.1:g.31355288G>A	GRCh37
NC_000014.7:g.30425039G>A	NCBI36
NG_008211.2:g.16548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1442G>A	ENSP00000216361.5:p.Arg481His
ENST00000396618.9:c.1247G>A MANE Select	ENSP00000379862.3:p.Arg416His
ENST00000555117.2:c.1304G>A	ENSP00000493569.1:p.Arg435His
ENST00000643575.1:c.1247G>A	ENSP00000494838.1:p.Arg416His
ENST00000643697.1:n.1549G>A
ENST00000644874.2:c.1247G>A	ENSP00000496360.1:p.Arg416His
ENST00000216361.8:c.1247G>A	ENSP00000216361.4:p.Arg416His
ENST00000396618.7:c.1247G>A	ENSP00000379862.3:p.Arg416His
ENST00000460581.6:c.911G>A	ENSP00000451713.1:p.Arg304His
ENST00000468826.2:c.898G>A
ENST00000475087.5:c.1247G>A	ENSP00000451528.1:p.Arg416His
NM_001135058.1:c.1247G>A	NP_001128530.1:p.Arg416His
NM_004086.2:c.1247G>A	NP_004077.1:p.Arg416His
NR_038356.1:n.783C>T
XM_011536539.1:c.1247G>A	XP_011534841.1:p.Arg416His
NM_001347720.1:c.1442G>A	NP_001334649.1:p.Arg481His
XM_017021071.1:c.1442G>A	XP_016876560.1:p.Arg481His
XM_024449506.1:c.1304G>A	XP_024305274.1:p.Arg435His
NM_004086.3:c.1247G>A MANE Select	NP_004077.1:p.Arg416His
NM_001135058.2:c.1247G>A	NP_001128530.1:p.Arg416His
NM_001347720.2:c.1442G>A	NP_001334649.1:p.Arg481His