Canonical Allele Identifier: CA486083721
Gene: COCH HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.31354975A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.30885769A>C , CM000676.2:g.30885769A>C GRCh38
NC_000014.8:g.31354975A>C , CM000676.1:g.31354975A>C GRCh37
NC_000014.7:g.30424726A>C NCBI36
NG_008211.2:g.16235A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216361.9:c.1156-27A>C ENSP00000216361.5:n.1156-27A>C
ENST00000396618.9:c.961-27A>C MANE Select ENSP00000379862.3:n.961-27A>C
ENST00000555117.2:c.1018-27A>C ENSP00000493569.1:n.1018-27A>C
ENST00000643575.1:c.961-27A>C ENSP00000494838.1:n.961-27A>C
ENST00000643697.1:n.1263-27A>C
ENST00000644874.2:c.961-27A>C ENSP00000496360.1:n.961-27A>C
ENST00000216361.8:c.961-27A>C ENSP00000216361.4:n.961-27A>C
ENST00000396618.7:c.961-27A>C ENSP00000379862.3:n.961-27A>C
ENST00000460581.6:c.625-27A>C ENSP00000451713.1:n.625-27A>C
ENST00000468826.2:c.612-27A>C
ENST00000475087.5:c.961-27A>C ENSP00000451528.1:n.961-27A>C
NM_001135058.1:c.961-27A>C NP_001128530.1:n.961-27A>C
NM_004086.2:c.961-27A>C NP_004077.1:n.961-27A>C
NR_038356.1:n.1096T>G
XM_011536539.1:c.961-27A>C XP_011534841.1:n.961-27A>C
NM_001347720.1:c.1156-27A>C NP_001334649.1:n.1156-27A>C
XM_017021071.1:c.1156-27A>C XP_016876560.1:n.1156-27A>C
XM_024449506.1:c.1018-27A>C XP_024305274.1:n.1018-27A>C
NM_004086.3:c.961-27A>C MANE Select NP_004077.1:n.961-27A>C
NM_001135058.2:c.961-27A>C NP_001128530.1:n.961-27A>C
NM_001347720.2:c.1156-27A>C NP_001334649.1:n.1156-27A>C