Canonical Allele Identifier: CA7143286

Gene: COCH

Linked Data

• ClinVar Variation Id: 313004
• ClinVar RCV Id: RCV000340373 ; RCV000506683 ; RCV000755239 ; RCV003950064
• dbSNP Id: rs28362778
• ExAC: 14:31355245 A / G
• gnomAD v2: 14-31355245-A-G
• gnomAD v3: 14-30886039-A-G
• gnomAD v4: 14-30886039-A-G
• MyVariant Identifiers: chr14:g.31355245A>G (hg19) ; chr14:g.30886039A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30886039A>G , CM000676.2:g.30886039A>G	GRCh38
NC_000014.8:g.31355245A>G , CM000676.1:g.31355245A>G	GRCh37
NC_000014.7:g.30424996A>G	NCBI36
NG_008211.2:g.16505A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1399A>G	ENSP00000216361.5:p.Ile467Val
ENST00000396618.9:c.1204A>G MANE Select	ENSP00000379862.3:p.Ile402Val
ENST00000555117.2:c.1261A>G	ENSP00000493569.1:p.Ile421Val
ENST00000643575.1:c.1204A>G	ENSP00000494838.1:p.Ile402Val
ENST00000643697.1:n.1506A>G
ENST00000644874.2:c.1204A>G	ENSP00000496360.1:p.Ile402Val
ENST00000216361.8:c.1204A>G	ENSP00000216361.4:p.Ile402Val
ENST00000396618.7:c.1204A>G	ENSP00000379862.3:p.Ile402Val
ENST00000460581.6:c.868A>G	ENSP00000451713.1:p.Ile290Val
ENST00000468826.2:c.855A>G
ENST00000475087.5:c.1204A>G	ENSP00000451528.1:p.Ile402Val
NM_001135058.1:c.1204A>G	NP_001128530.1:p.Ile402Val
NM_004086.2:c.1204A>G	NP_004077.1:p.Ile402Val
NR_038356.1:n.826T>C
XM_011536539.1:c.1204A>G	XP_011534841.1:p.Ile402Val
NM_001347720.1:c.1399A>G	NP_001334649.1:p.Ile467Val
XM_017021071.1:c.1399A>G	XP_016876560.1:p.Ile467Val
XM_024449506.1:c.1261A>G	XP_024305274.1:p.Ile421Val
NM_004086.3:c.1204A>G MANE Select	NP_004077.1:p.Ile402Val
NM_001135058.2:c.1204A>G	NP_001128530.1:p.Ile402Val
NM_001347720.2:c.1399A>G	NP_001334649.1:p.Ile467Val