Canonical Allele Identifier: CA7142950

Gene: COCH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30877686T>C , CM000676.2:g.30877686T>C	GRCh38
NC_000014.8:g.31346892T>C , CM000676.1:g.31346892T>C	GRCh37
NC_000014.7:g.30416643T>C	NCBI36
NG_008211.2:g.8152T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.392T>C	ENSP00000216361.5:p.Val131Ala
ENST00000396618.9:c.197T>C MANE Select	ENSP00000379862.3:p.Val66Ala
ENST00000555117.2:c.197T>C	ENSP00000493569.1:p.Val66Ala
ENST00000643575.1:c.197T>C	ENSP00000494838.1:p.Val66Ala
ENST00000643697.1:n.442T>C
ENST00000644874.2:c.197T>C	ENSP00000496360.1:p.Val66Ala
ENST00000216361.8:c.197T>C	ENSP00000216361.4:p.Val66Ala
ENST00000396618.7:c.197T>C	ENSP00000379862.3:p.Val66Ala
ENST00000460581.6:c.-140T>C	ENSP00000451713.1:n.-140T>C
ENST00000475087.5:c.197T>C	ENSP00000451528.1:p.Val66Ala
ENST00000553772.5:c.197T>C	ENSP00000452343.1:p.Val66Ala
ENST00000553833.5:n.351T>C
ENST00000555881.5:c.82+2583T>C	ENSP00000452569.1:n.82+2583T>C
ENST00000556908.5:c.149T>C	ENSP00000452541.1:p.Val50Ala
ENST00000557065.1:c.113T>C	ENSP00000451629.1:p.Val38Ala
NM_001135058.1:c.197T>C	NP_001128530.1:p.Val66Ala
NM_004086.2:c.197T>C	NP_004077.1:p.Val66Ala
NR_038356.1:n.1618-1134A>G
XM_011536539.1:c.197T>C	XP_011534841.1:p.Val66Ala
NM_001347720.1:c.392T>C	NP_001334649.1:p.Val131Ala
XM_017021071.1:c.392T>C	XP_016876560.1:p.Val131Ala
XM_024449506.1:c.197T>C	XP_024305274.1:p.Val66Ala
NM_004086.3:c.197T>C MANE Select	NP_004077.1:p.Val66Ala
NM_001135058.2:c.197T>C	NP_001128530.1:p.Val66Ala
NM_001347720.2:c.392T>C	NP_001334649.1:p.Val131Ala