Canonical Allele Identifier: CA485832252

Gene: COCH

Linked Data

• ClinVar Variation Id: 680443
• ClinVar RCV Id: RCV000840233
• dbSNP Id: rs1594384110
• MyVariant Identifiers: chr14:g.31354667C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885461C>T , CM000676.2:g.30885461C>T	GRCh38
NC_000014.8:g.31354667C>T , CM000676.1:g.31354667C>T	GRCh37
NC_000014.7:g.30424418C>T	NCBI36
NG_008211.2:g.15927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.996C>T	ENSP00000216361.5:p.Pro332=
ENST00000396618.9:c.801C>T MANE Select	ENSP00000379862.3:p.Pro267=
ENST00000555117.2:c.858C>T	ENSP00000493569.1:p.Pro286=
ENST00000643575.1:c.801C>T	ENSP00000494838.1:p.Pro267=
ENST00000643697.1:n.1103C>T
ENST00000644874.2:c.801C>T	ENSP00000496360.1:p.Pro267=
ENST00000216361.8:c.801C>T	ENSP00000216361.4:p.Pro267=
ENST00000396618.7:c.801C>T	ENSP00000379862.3:p.Pro267=
ENST00000460581.6:c.465C>T	ENSP00000451713.1:p.Pro155=
ENST00000468826.2:c.452C>T
ENST00000475087.5:c.801C>T	ENSP00000451528.1:p.Pro267=
ENST00000555881.5:c.447C>T	ENSP00000452569.1:p.Pro149=
ENST00000557065.1:c.583C>T	ENSP00000451629.1:n.583C>T
NM_001135058.1:c.801C>T	NP_001128530.1:p.Pro267=
NM_004086.2:c.801C>T	NP_004077.1:p.Pro267=
NR_038356.1:n.1404G>A
XM_011536539.1:c.801C>T	XP_011534841.1:p.Pro267=
NM_001347720.1:c.996C>T	NP_001334649.1:p.Pro332=
XM_017021071.1:c.996C>T	XP_016876560.1:p.Pro332=
XM_024449506.1:c.858C>T	XP_024305274.1:p.Pro286=
NM_004086.3:c.801C>T MANE Select	NP_004077.1:p.Pro267=
NM_001135058.2:c.801C>T	NP_001128530.1:p.Pro267=
NM_001347720.2:c.996C>T	NP_001334649.1:p.Pro332=