Canonical Allele Identifier: CA389347669

Gene: COCH

Linked Data

• gnomAD v4: 14-30885492-C-T
• MyVariant Identifiers: chr14:g.31354698C>T (hg19) ; chr14:g.30885492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885492C>T , CM000676.2:g.30885492C>T	GRCh38
NC_000014.8:g.31354698C>T , CM000676.1:g.31354698C>T	GRCh37
NC_000014.7:g.30424449C>T	NCBI36
NG_008211.2:g.15958C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1027C>T	ENSP00000216361.5:p.Pro343Ser
ENST00000396618.9:c.832C>T MANE Select	ENSP00000379862.3:p.Pro278Ser
ENST00000555117.2:c.889C>T	ENSP00000493569.1:p.Pro297Ser
ENST00000643575.1:c.832C>T	ENSP00000494838.1:p.Pro278Ser
ENST00000643697.1:n.1134C>T
ENST00000644874.2:c.832C>T	ENSP00000496360.1:p.Pro278Ser
ENST00000216361.8:c.832C>T	ENSP00000216361.4:p.Pro278Ser
ENST00000396618.7:c.832C>T	ENSP00000379862.3:p.Pro278Ser
ENST00000460581.6:c.496C>T	ENSP00000451713.1:p.Pro166Ser
ENST00000468826.2:c.483C>T
ENST00000475087.5:c.832C>T	ENSP00000451528.1:p.Pro278Ser
ENST00000555881.5:c.478C>T	ENSP00000452569.1:p.Pro160Ser
ENST00000557065.1:c.614C>T	ENSP00000451629.1:n.614C>T
NM_001135058.1:c.832C>T	NP_001128530.1:p.Pro278Ser
NM_004086.2:c.832C>T	NP_004077.1:p.Pro278Ser
NR_038356.1:n.1373G>A
XM_011536539.1:c.832C>T	XP_011534841.1:p.Pro278Ser
NM_001347720.1:c.1027C>T	NP_001334649.1:p.Pro343Ser
XM_017021071.1:c.1027C>T	XP_016876560.1:p.Pro343Ser
XM_024449506.1:c.889C>T	XP_024305274.1:p.Pro297Ser
NM_004086.3:c.832C>T MANE Select	NP_004077.1:p.Pro278Ser
NM_001135058.2:c.832C>T	NP_001128530.1:p.Pro278Ser
NM_001347720.2:c.1027C>T	NP_001334649.1:p.Pro343Ser