Canonical Allele Identifier: CA389344565

Gene: COCH

Linked Data

• gnomAD v4: 14-30878846-T-C
• MyVariant Identifiers: chr14:g.31348052T>C (hg19) ; chr14:g.30878846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878846T>C , CM000676.2:g.30878846T>C	GRCh38
NC_000014.8:g.31348052T>C , CM000676.1:g.31348052T>C	GRCh37
NC_000014.7:g.30417803T>C	NCBI36
NG_008211.2:g.9312T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.470T>C	ENSP00000216361.5:p.Val157Ala
ENST00000396618.9:c.275T>C MANE Select	ENSP00000379862.3:p.Val92Ala
ENST00000555117.2:c.275T>C	ENSP00000493569.1:p.Val92Ala
ENST00000643575.1:c.275T>C	ENSP00000494838.1:p.Val92Ala
ENST00000643697.1:n.520T>C
ENST00000644874.2:c.275T>C	ENSP00000496360.1:p.Val92Ala
ENST00000216361.8:c.275T>C	ENSP00000216361.4:p.Val92Ala
ENST00000396618.7:c.275T>C	ENSP00000379862.3:p.Val92Ala
ENST00000460581.6:c.-62T>C	ENSP00000451713.1:n.-62T>C
ENST00000475087.5:c.275T>C	ENSP00000451528.1:p.Val92Ala
ENST00000553772.5:c.239+1118T>C	ENSP00000452343.1:n.239+1118T>C
ENST00000553833.5:n.429T>C
ENST00000555881.5:c.83-1606T>C	ENSP00000452569.1:n.83-1606T>C
ENST00000556908.5:c.227T>C	ENSP00000452541.1:p.Val76Ala
ENST00000557065.1:c.156-577T>C	ENSP00000451629.1:n.156-577T>C
NM_001135058.1:c.275T>C	NP_001128530.1:p.Val92Ala
NM_004086.2:c.275T>C	NP_004077.1:p.Val92Ala
NR_038356.1:n.1618-2294A>G
XM_011536539.1:c.275T>C	XP_011534841.1:p.Val92Ala
NM_001347720.1:c.470T>C	NP_001334649.1:p.Val157Ala
XM_017021071.1:c.470T>C	XP_016876560.1:p.Val157Ala
XM_024449506.1:c.275T>C	XP_024305274.1:p.Val92Ala
NM_004086.3:c.275T>C MANE Select	NP_004077.1:p.Val92Ala
NM_001135058.2:c.275T>C	NP_001128530.1:p.Val92Ala
NM_001347720.2:c.470T>C	NP_001334649.1:p.Val157Ala