Canonical Allele Identifier: CA961579987

Gene: COCH

Linked Data

• dbSNP Id: rs1895935310
• gnomAD v3: 14-30890204-T-C
• gnomAD v4: 14-30890204-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30890204T>C , CM000676.2:g.30890204T>C	GRCh38
NC_000014.8:g.31359410T>C , CM000676.1:g.31359410T>C	GRCh37
NC_000014.7:g.30429161T>C	NCBI36
NG_008211.2:g.20670T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396618.9:c.*413T>C MANE Select	ENSP00000379862.3:n.*413T>C
ENST00000555117.2:c.1534+3892T>C	ENSP00000493569.1:n.1534+3892T>C
ENST00000643575.1:c.*2+411T>C	ENSP00000494838.1:n.*2+411T>C
ENST00000644874.2:c.*413T>C	ENSP00000496360.1:n.*413T>C
ENST00000396618.7:c.*413T>C	ENSP00000379862.3:n.*413T>C
ENST00000460581.6:c.*413T>C	ENSP00000451713.1:n.*413T>C
ENST00000468826.2:c.1717T>C
ENST00000475087.5:c.1477+3892T>C	ENSP00000451528.1:n.1477+3892T>C
NM_001135058.1:c.*413T>C	NP_001128530.1:n.*413T>C
NM_004086.2:c.*413T>C	NP_004077.1:n.*413T>C
XM_011536539.1:c.*2+411T>C	XP_011534841.1:n.*2+411T>C
NM_001347720.1:c.*413T>C	NP_001334649.1:n.*413T>C
XM_017021071.1:c.*413T>C	XP_016876560.1:n.*413T>C
XM_024449506.1:c.*413T>C	XP_024305274.1:n.*413T>C
NM_004086.3:c.*413T>C MANE Select	NP_004077.1:n.*413T>C
NM_001135058.2:c.*413T>C	NP_001128530.1:n.*413T>C
NM_001347720.2:c.*413T>C	NP_001334649.1:n.*413T>C