Canonical Allele Identifier: CA485832241

Gene: COCH

Linked Data

• gnomAD v4: 14-30885449-A-G
• MyVariant Identifiers: chr14:g.31354655A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885449A>G , CM000676.2:g.30885449A>G	GRCh38
NC_000014.8:g.31354655A>G , CM000676.1:g.31354655A>G	GRCh37
NC_000014.7:g.30424406A>G	NCBI36
NG_008211.2:g.15915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.984A>G	ENSP00000216361.5:p.Arg328=
ENST00000396618.9:c.789A>G MANE Select	ENSP00000379862.3:p.Arg263=
ENST00000555117.2:c.846A>G	ENSP00000493569.1:p.Arg282=
ENST00000643575.1:c.789A>G	ENSP00000494838.1:p.Arg263=
ENST00000643697.1:n.1091A>G
ENST00000644874.2:c.789A>G	ENSP00000496360.1:p.Arg263=
ENST00000216361.8:c.789A>G	ENSP00000216361.4:p.Arg263=
ENST00000396618.7:c.789A>G	ENSP00000379862.3:p.Arg263=
ENST00000460581.6:c.453A>G	ENSP00000451713.1:p.Arg151=
ENST00000468826.2:c.440A>G
ENST00000475087.5:c.789A>G	ENSP00000451528.1:p.Arg263=
ENST00000555881.5:c.435A>G	ENSP00000452569.1:p.Arg145=
ENST00000557065.1:c.571A>G	ENSP00000451629.1:n.571A>G
NM_001135058.1:c.789A>G	NP_001128530.1:p.Arg263=
NM_004086.2:c.789A>G	NP_004077.1:p.Arg263=
NR_038356.1:n.1416T>C
XM_011536539.1:c.789A>G	XP_011534841.1:p.Arg263=
NM_001347720.1:c.984A>G	NP_001334649.1:p.Arg328=
XM_017021071.1:c.984A>G	XP_016876560.1:p.Arg328=
XM_024449506.1:c.846A>G	XP_024305274.1:p.Arg282=
NM_004086.3:c.789A>G MANE Select	NP_004077.1:p.Arg263=
NM_001135058.2:c.789A>G	NP_001128530.1:p.Arg263=
NM_001347720.2:c.984A>G	NP_001334649.1:p.Arg328=