Canonical Allele Identifier: CA389344562

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31348051G>C (hg19) ; chr14:g.30878845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878845G>C , CM000676.2:g.30878845G>C	GRCh38
NC_000014.8:g.31348051G>C , CM000676.1:g.31348051G>C	GRCh37
NC_000014.7:g.30417802G>C	NCBI36
NG_008211.2:g.9311G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.469G>C	ENSP00000216361.5:p.Val157Leu
ENST00000396618.9:c.274G>C MANE Select	ENSP00000379862.3:p.Val92Leu
ENST00000555117.2:c.274G>C	ENSP00000493569.1:p.Val92Leu
ENST00000643575.1:c.274G>C	ENSP00000494838.1:p.Val92Leu
ENST00000643697.1:n.519G>C
ENST00000644874.2:c.274G>C	ENSP00000496360.1:p.Val92Leu
ENST00000216361.8:c.274G>C	ENSP00000216361.4:p.Val92Leu
ENST00000396618.7:c.274G>C	ENSP00000379862.3:p.Val92Leu
ENST00000460581.6:c.-63G>C	ENSP00000451713.1:n.-63G>C
ENST00000475087.5:c.274G>C	ENSP00000451528.1:p.Val92Leu
ENST00000553772.5:c.239+1117G>C	ENSP00000452343.1:n.239+1117G>C
ENST00000553833.5:n.428G>C
ENST00000555881.5:c.83-1607G>C	ENSP00000452569.1:n.83-1607G>C
ENST00000556908.5:c.226G>C	ENSP00000452541.1:p.Val76Leu
ENST00000557065.1:c.156-578G>C	ENSP00000451629.1:n.156-578G>C
NM_001135058.1:c.274G>C	NP_001128530.1:p.Val92Leu
NM_004086.2:c.274G>C	NP_004077.1:p.Val92Leu
NR_038356.1:n.1618-2293C>G
XM_011536539.1:c.274G>C	XP_011534841.1:p.Val92Leu
NM_001347720.1:c.469G>C	NP_001334649.1:p.Val157Leu
XM_017021071.1:c.469G>C	XP_016876560.1:p.Val157Leu
XM_024449506.1:c.274G>C	XP_024305274.1:p.Val92Leu
NM_004086.3:c.274G>C MANE Select	NP_004077.1:p.Val92Leu
NM_001135058.2:c.274G>C	NP_001128530.1:p.Val92Leu
NM_001347720.2:c.469G>C	NP_001334649.1:p.Val157Leu