Canonical Allele Identifier: CA389348313
Gene: COCH HGNC NCBI

Linked Data

ClinVar Variation Id: 813819
ClinVar RCV Id: RCV001004791
dbSNP Id: rs1594385065
gnomAD v4: 14-30885950-T-C
MyVariant Identifiers: chr14:g.31355156T>C (hg19) chr14:g.30885950T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30885950T>C , CM000676.2:g.30885950T>C GRCh38
NC_000014.8:g.31355156T>C , CM000676.1:g.31355156T>C GRCh37
NC_000014.7:g.30424907T>C NCBI36
NG_008211.2:g.16416T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216361.9:c.1310T>C ENSP00000216361.5:p.Ile437Thr
ENST00000396618.9:c.1115T>C MANE Select ENSP00000379862.3:p.Ile372Thr
ENST00000555117.2:c.1172T>C ENSP00000493569.1:p.Ile391Thr
ENST00000643575.1:c.1115T>C ENSP00000494838.1:p.Ile372Thr
ENST00000643697.1:n.1417T>C
ENST00000644874.2:c.1115T>C ENSP00000496360.1:p.Ile372Thr
ENST00000216361.8:c.1115T>C ENSP00000216361.4:p.Ile372Thr
ENST00000396618.7:c.1115T>C ENSP00000379862.3:p.Ile372Thr
ENST00000460581.6:c.779T>C ENSP00000451713.1:p.Ile260Thr
ENST00000468826.2:c.766T>C
ENST00000475087.5:c.1115T>C ENSP00000451528.1:p.Ile372Thr
NM_001135058.1:c.1115T>C NP_001128530.1:p.Ile372Thr
NM_004086.2:c.1115T>C NP_004077.1:p.Ile372Thr
NR_038356.1:n.915A>G
XM_011536539.1:c.1115T>C XP_011534841.1:p.Ile372Thr
NM_001347720.1:c.1310T>C NP_001334649.1:p.Ile437Thr
XM_017021071.1:c.1310T>C XP_016876560.1:p.Ile437Thr
XM_024449506.1:c.1172T>C XP_024305274.1:p.Ile391Thr
NM_004086.3:c.1115T>C MANE Select NP_004077.1:p.Ile372Thr
NM_001135058.2:c.1115T>C NP_001128530.1:p.Ile372Thr
NM_001347720.2:c.1310T>C NP_001334649.1:p.Ile437Thr
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