Canonical Allele Identifier: CA485835244

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31358982A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889776A>G , CM000676.2:g.30889776A>G	GRCh38
NC_000014.8:g.31358982A>G , CM000676.1:g.31358982A>G	GRCh37
NC_000014.7:g.30428733A>G	NCBI36
NG_008211.2:g.20242A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1833A>G	ENSP00000216361.5:p.Leu611=
ENST00000396618.9:c.1638A>G MANE Select	ENSP00000379862.3:p.Leu546=
ENST00000555117.2:c.1534+3464A>G	ENSP00000493569.1:n.1534+3464A>G
ENST00000643575.1:c.1638A>G	ENSP00000494838.1:p.Leu546=
ENST00000643697.1:n.1940A>G
ENST00000644874.2:c.1638A>G	ENSP00000496360.1:p.Leu546=
ENST00000216361.8:c.1638A>G	ENSP00000216361.4:p.Leu546=
ENST00000396618.7:c.1638A>G	ENSP00000379862.3:p.Leu546=
ENST00000460581.6:c.1302A>G	ENSP00000451713.1:p.Leu434=
ENST00000468826.2:c.1289A>G
ENST00000475087.5:c.1477+3464A>G	ENSP00000451528.1:n.1477+3464A>G
NM_001135058.1:c.1638A>G	NP_001128530.1:p.Leu546=
NM_004086.2:c.1638A>G	NP_004077.1:p.Leu546=
NR_038356.1:n.33T>C
XM_011536539.1:c.1638A>G	XP_011534841.1:p.Leu546=
NM_001347720.1:c.1833A>G	NP_001334649.1:p.Leu611=
XM_017021071.1:c.1833A>G	XP_016876560.1:p.Leu611=
XM_024449506.1:c.1695A>G	XP_024305274.1:p.Leu565=
NM_004086.3:c.1638A>G MANE Select	NP_004077.1:p.Leu546=
NM_001135058.2:c.1638A>G	NP_001128530.1:p.Leu546=
NM_001347720.2:c.1833A>G	NP_001334649.1:p.Leu611=