Canonical Allele Identifier: CA389349515

Gene: COCH

Linked Data

• dbSNP Id: rs1594391093
• MyVariant Identifiers: chr14:g.31358864A>G (hg19) ; chr14:g.30889658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889658A>G , CM000676.2:g.30889658A>G	GRCh38
NC_000014.8:g.31358864A>G , CM000676.1:g.31358864A>G	GRCh37
NC_000014.7:g.30428615A>G	NCBI36
NG_008211.2:g.20124A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1715A>G	ENSP00000216361.5:p.Asp572Gly
ENST00000396618.9:c.1520A>G MANE Select	ENSP00000379862.3:p.Asp507Gly
ENST00000555117.2:c.1534+3346A>G	ENSP00000493569.1:n.1534+3346A>G
ENST00000643575.1:c.1520A>G	ENSP00000494838.1:p.Asp507Gly
ENST00000643697.1:n.1822A>G
ENST00000644874.2:c.1520A>G	ENSP00000496360.1:p.Asp507Gly
ENST00000216361.8:c.1520A>G	ENSP00000216361.4:p.Asp507Gly
ENST00000396618.7:c.1520A>G	ENSP00000379862.3:p.Asp507Gly
ENST00000460581.6:c.1184A>G	ENSP00000451713.1:p.Asp395Gly
ENST00000468826.2:c.1171A>G
ENST00000475087.5:c.1477+3346A>G	ENSP00000451528.1:n.1477+3346A>G
NM_001135058.1:c.1520A>G	NP_001128530.1:p.Asp507Gly
NM_004086.2:c.1520A>G	NP_004077.1:p.Asp507Gly
NR_038356.1:n.151T>C
XM_011536539.1:c.1520A>G	XP_011534841.1:p.Asp507Gly
NM_001347720.1:c.1715A>G	NP_001334649.1:p.Asp572Gly
XM_017021071.1:c.1715A>G	XP_016876560.1:p.Asp572Gly
XM_024449506.1:c.1577A>G	XP_024305274.1:p.Asp526Gly
NM_004086.3:c.1520A>G MANE Select	NP_004077.1:p.Asp507Gly
NM_001135058.2:c.1520A>G	NP_001128530.1:p.Asp507Gly
NM_001347720.2:c.1715A>G	NP_001334649.1:p.Asp572Gly