Canonical Allele Identifier: CA485833965
Gene: COCH HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31358763T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30889557T>A , CM000676.2:g.30889557T>A GRCh38
NC_000014.8:g.31358763T>A , CM000676.1:g.31358763T>A GRCh37
NC_000014.7:g.30428514T>A NCBI36
NG_008211.2:g.20023T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216361.9:c.1673-59T>A ENSP00000216361.5:n.1673-59T>A
ENST00000396618.9:c.1478-59T>A MANE Select ENSP00000379862.3:n.1478-59T>A
ENST00000555117.2:c.1534+3245T>A ENSP00000493569.1:n.1534+3245T>A
ENST00000643575.1:c.1478-59T>A ENSP00000494838.1:n.1478-59T>A
ENST00000643697.1:n.1780-59T>A
ENST00000644874.2:c.1478-59T>A ENSP00000496360.1:n.1478-59T>A
ENST00000216361.8:c.1478-59T>A ENSP00000216361.4:n.1478-59T>A
ENST00000396618.7:c.1478-59T>A ENSP00000379862.3:n.1478-59T>A
ENST00000460581.6:c.1142-59T>A ENSP00000451713.1:n.1142-59T>A
ENST00000468826.2:c.1129-59T>A
ENST00000475087.5:c.1477+3245T>A ENSP00000451528.1:n.1477+3245T>A
NM_001135058.1:c.1478-59T>A NP_001128530.1:n.1478-59T>A
NM_004086.2:c.1478-59T>A NP_004077.1:n.1478-59T>A
NR_038356.1:n.252A>T
XM_011536539.1:c.1478-59T>A XP_011534841.1:n.1478-59T>A
NM_001347720.1:c.1673-59T>A NP_001334649.1:n.1673-59T>A
XM_017021071.1:c.1673-59T>A XP_016876560.1:n.1673-59T>A
XM_024449506.1:c.1535-59T>A XP_024305274.1:n.1535-59T>A
NM_004086.3:c.1478-59T>A MANE Select NP_004077.1:n.1478-59T>A
NM_001135058.2:c.1478-59T>A NP_001128530.1:n.1478-59T>A
NM_001347720.2:c.1673-59T>A NP_001334649.1:n.1673-59T>A