Canonical Allele Identifier: CA389344621

Gene: COCH

Linked Data

• dbSNP Id: rs1418880737
• gnomAD v2: 14-31348079-A-C
• gnomAD v4: 14-30878873-A-C
• MyVariant Identifiers: chr14:g.31348079A>C (hg19) ; chr14:g.30878873A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878873A>C , CM000676.2:g.30878873A>C	GRCh38
NC_000014.8:g.31348079A>C , CM000676.1:g.31348079A>C	GRCh37
NC_000014.7:g.30417830A>C	NCBI36
NG_008211.2:g.9339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.497A>C	ENSP00000216361.5:p.Tyr166Ser
ENST00000396618.9:c.302A>C MANE Select	ENSP00000379862.3:p.Tyr101Ser
ENST00000555117.2:c.302A>C	ENSP00000493569.1:p.Tyr101Ser
ENST00000643575.1:c.302A>C	ENSP00000494838.1:p.Tyr101Ser
ENST00000643697.1:n.547A>C
ENST00000644874.2:c.302A>C	ENSP00000496360.1:p.Tyr101Ser
ENST00000216361.8:c.302A>C	ENSP00000216361.4:p.Tyr101Ser
ENST00000396618.7:c.302A>C	ENSP00000379862.3:p.Tyr101Ser
ENST00000460581.6:c.-35A>C	ENSP00000451713.1:n.-35A>C
ENST00000475087.5:c.302A>C	ENSP00000451528.1:p.Tyr101Ser
ENST00000553772.5:c.239+1145A>C	ENSP00000452343.1:n.239+1145A>C
ENST00000553833.5:n.456A>C
ENST00000555881.5:c.83-1579A>C	ENSP00000452569.1:n.83-1579A>C
ENST00000556908.5:c.254A>C	ENSP00000452541.1:p.Tyr85Ser
ENST00000557065.1:c.156-550A>C	ENSP00000451629.1:n.156-550A>C
NM_001135058.1:c.302A>C	NP_001128530.1:p.Tyr101Ser
NM_004086.2:c.302A>C	NP_004077.1:p.Tyr101Ser
NR_038356.1:n.1618-2321T>G
XM_011536539.1:c.302A>C	XP_011534841.1:p.Tyr101Ser
NM_001347720.1:c.497A>C	NP_001334649.1:p.Tyr166Ser
XM_017021071.1:c.497A>C	XP_016876560.1:p.Tyr166Ser
XM_024449506.1:c.302A>C	XP_024305274.1:p.Tyr101Ser
NM_004086.3:c.302A>C MANE Select	NP_004077.1:p.Tyr101Ser
NM_001135058.2:c.302A>C	NP_001128530.1:p.Tyr101Ser
NM_001347720.2:c.497A>C	NP_001334649.1:p.Tyr166Ser