Canonical Allele Identifier: CA485829011

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31348053C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878847C>G , CM000676.2:g.30878847C>G	GRCh38
NC_000014.8:g.31348053C>G , CM000676.1:g.31348053C>G	GRCh37
NC_000014.7:g.30417804C>G	NCBI36
NG_008211.2:g.9313C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.471C>G	ENSP00000216361.5:p.Val157=
ENST00000396618.9:c.276C>G MANE Select	ENSP00000379862.3:p.Val92=
ENST00000555117.2:c.276C>G	ENSP00000493569.1:p.Val92=
ENST00000643575.1:c.276C>G	ENSP00000494838.1:p.Val92=
ENST00000643697.1:n.521C>G
ENST00000644874.2:c.276C>G	ENSP00000496360.1:p.Val92=
ENST00000216361.8:c.276C>G	ENSP00000216361.4:p.Val92=
ENST00000396618.7:c.276C>G	ENSP00000379862.3:p.Val92=
ENST00000460581.6:c.-61C>G	ENSP00000451713.1:n.-61C>G
ENST00000475087.5:c.276C>G	ENSP00000451528.1:p.Val92=
ENST00000553772.5:c.239+1119C>G	ENSP00000452343.1:n.239+1119C>G
ENST00000553833.5:n.430C>G
ENST00000555881.5:c.83-1605C>G	ENSP00000452569.1:n.83-1605C>G
ENST00000556908.5:c.228C>G	ENSP00000452541.1:p.Val76=
ENST00000557065.1:c.156-576C>G	ENSP00000451629.1:n.156-576C>G
NM_001135058.1:c.276C>G	NP_001128530.1:p.Val92=
NM_004086.2:c.276C>G	NP_004077.1:p.Val92=
NR_038356.1:n.1618-2295G>C
XM_011536539.1:c.276C>G	XP_011534841.1:p.Val92=
NM_001347720.1:c.471C>G	NP_001334649.1:p.Val157=
XM_017021071.1:c.471C>G	XP_016876560.1:p.Val157=
XM_024449506.1:c.276C>G	XP_024305274.1:p.Val92=
NM_004086.3:c.276C>G MANE Select	NP_004077.1:p.Val92=
NM_001135058.2:c.276C>G	NP_001128530.1:p.Val92=
NM_001347720.2:c.471C>G	NP_001334649.1:p.Val157=