Canonical Allele Identifier: CA7143371

Gene: COCH

Linked Data

• dbSNP Id: rs763246563
• ExAC: 14:31358978 T / A
• gnomAD v2: 14-31358978-T-A
• gnomAD v4: 14-30889772-T-A
• MyVariant Identifiers: chr14:g.31358978T>A (hg19) ; chr14:g.30889772T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889772T>A , CM000676.2:g.30889772T>A	GRCh38
NC_000014.8:g.31358978T>A , CM000676.1:g.31358978T>A	GRCh37
NC_000014.7:g.30428729T>A	NCBI36
NG_008211.2:g.20238T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1829T>A	ENSP00000216361.5:p.Phe610Tyr
ENST00000396618.9:c.1634T>A MANE Select	ENSP00000379862.3:p.Phe545Tyr
ENST00000555117.2:c.1534+3460T>A	ENSP00000493569.1:n.1534+3460T>A
ENST00000643575.1:c.1634T>A	ENSP00000494838.1:p.Phe545Tyr
ENST00000643697.1:n.1936T>A
ENST00000644874.2:c.1634T>A	ENSP00000496360.1:p.Phe545Tyr
ENST00000216361.8:c.1634T>A	ENSP00000216361.4:p.Phe545Tyr
ENST00000396618.7:c.1634T>A	ENSP00000379862.3:p.Phe545Tyr
ENST00000460581.6:c.1298T>A	ENSP00000451713.1:p.Phe433Tyr
ENST00000468826.2:c.1285T>A
ENST00000475087.5:c.1477+3460T>A	ENSP00000451528.1:n.1477+3460T>A
NM_001135058.1:c.1634T>A	NP_001128530.1:p.Phe545Tyr
NM_004086.2:c.1634T>A	NP_004077.1:p.Phe545Tyr
NR_038356.1:n.37A>T
XM_011536539.1:c.1634T>A	XP_011534841.1:p.Phe545Tyr
NM_001347720.1:c.1829T>A	NP_001334649.1:p.Phe610Tyr
XM_017021071.1:c.1829T>A	XP_016876560.1:p.Phe610Tyr
XM_024449506.1:c.1691T>A	XP_024305274.1:p.Phe564Tyr
NM_004086.3:c.1634T>A MANE Select	NP_004077.1:p.Phe545Tyr
NM_001135058.2:c.1634T>A	NP_001128530.1:p.Phe545Tyr
NM_001347720.2:c.1829T>A	NP_001334649.1:p.Phe610Tyr