Canonical Allele Identifier: CA389348575

Gene: COCH

Linked Data

• gnomAD v4: 14-30886070-C-T
• MyVariant Identifiers: chr14:g.31355276C>T (hg19) ; chr14:g.30886070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30886070C>T , CM000676.2:g.30886070C>T	GRCh38
NC_000014.8:g.31355276C>T , CM000676.1:g.31355276C>T	GRCh37
NC_000014.7:g.30425027C>T	NCBI36
NG_008211.2:g.16536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1430C>T	ENSP00000216361.5:p.Thr477Ile
ENST00000396618.9:c.1235C>T MANE Select	ENSP00000379862.3:p.Thr412Ile
ENST00000555117.2:c.1292C>T	ENSP00000493569.1:p.Thr431Ile
ENST00000643575.1:c.1235C>T	ENSP00000494838.1:p.Thr412Ile
ENST00000643697.1:n.1537C>T
ENST00000644874.2:c.1235C>T	ENSP00000496360.1:p.Thr412Ile
ENST00000216361.8:c.1235C>T	ENSP00000216361.4:p.Thr412Ile
ENST00000396618.7:c.1235C>T	ENSP00000379862.3:p.Thr412Ile
ENST00000460581.6:c.899C>T	ENSP00000451713.1:p.Thr300Ile
ENST00000468826.2:c.886C>T
ENST00000475087.5:c.1235C>T	ENSP00000451528.1:p.Thr412Ile
NM_001135058.1:c.1235C>T	NP_001128530.1:p.Thr412Ile
NM_004086.2:c.1235C>T	NP_004077.1:p.Thr412Ile
NR_038356.1:n.795G>A
XM_011536539.1:c.1235C>T	XP_011534841.1:p.Thr412Ile
NM_001347720.1:c.1430C>T	NP_001334649.1:p.Thr477Ile
XM_017021071.1:c.1430C>T	XP_016876560.1:p.Thr477Ile
XM_024449506.1:c.1292C>T	XP_024305274.1:p.Thr431Ile
NM_004086.3:c.1235C>T MANE Select	NP_004077.1:p.Thr412Ile
NM_001135058.2:c.1235C>T	NP_001128530.1:p.Thr412Ile
NM_001347720.2:c.1430C>T	NP_001334649.1:p.Thr477Ile