Canonical Allele Identifier: CA253895

Gene: COCH

Linked Data

• ClinVar Variation Id: 6614
• ClinVar RCV Id: RCV000006993 ; RCV000214849 ; RCV001547940
• dbSNP Id: rs121908932
• MyVariant Identifiers: chr14:g.31358969G>T (hg19) ; chr14:g.30889763G>T (hg38)
• PubMed: PMID:16261627 ; PMID:18312449 ; PMID:25780252

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889763G>T , CM000676.2:g.30889763G>T	GRCh38
NC_000014.8:g.31358969G>T , CM000676.1:g.31358969G>T	GRCh37
NC_000014.7:g.30428720G>T	NCBI36
NG_008211.2:g.20229G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1820G>T	ENSP00000216361.5:p.Cys607Phe
ENST00000396618.9:c.1625G>T MANE Select	ENSP00000379862.3:p.Cys542Phe
ENST00000555117.2:c.1534+3451G>T	ENSP00000493569.1:n.1534+3451G>T
ENST00000643575.1:c.1625G>T	ENSP00000494838.1:p.Cys542Phe
ENST00000643697.1:n.1927G>T
ENST00000644874.2:c.1625G>T	ENSP00000496360.1:p.Cys542Phe
ENST00000216361.8:c.1625G>T	ENSP00000216361.4:p.Cys542Phe
ENST00000396618.7:c.1625G>T	ENSP00000379862.3:p.Cys542Phe
ENST00000460581.6:c.1289G>T	ENSP00000451713.1:p.Cys430Phe
ENST00000468826.2:c.1276G>T
ENST00000475087.5:c.1477+3451G>T	ENSP00000451528.1:n.1477+3451G>T
NM_001135058.1:c.1625G>T	NP_001128530.1:p.Cys542Phe
NM_004086.2:c.1625G>T	NP_004077.1:p.Cys542Phe
NR_038356.1:n.46C>A
XM_011536539.1:c.1625G>T	XP_011534841.1:p.Cys542Phe
NM_001347720.1:c.1820G>T	NP_001334649.1:p.Cys607Phe
XM_017021071.1:c.1820G>T	XP_016876560.1:p.Cys607Phe
XM_024449506.1:c.1682G>T	XP_024305274.1:p.Cys561Phe
NM_004086.3:c.1625G>T MANE Select	NP_004077.1:p.Cys542Phe
NM_001135058.2:c.1625G>T	NP_001128530.1:p.Cys542Phe
NM_001347720.2:c.1820G>T	NP_001334649.1:p.Cys607Phe