Canonical Allele Identifier: CA2624446550

Gene: COCH

Linked Data

• gnomAD v4: 14-30889839-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889839T>C , CM000676.2:g.30889839T>C	GRCh38
NC_000014.8:g.31359045T>C , CM000676.1:g.31359045T>C	GRCh37
NC_000014.7:g.30428796T>C	NCBI36
NG_008211.2:g.20305T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.*48T>C	ENSP00000216361.5:n.*48T>C
ENST00000396618.9:c.*48T>C MANE Select	ENSP00000379862.3:n.*48T>C
ENST00000555117.2:c.1534+3527T>C	ENSP00000493569.1:n.1534+3527T>C
ENST00000643575.1:c.*2+46T>C	ENSP00000494838.1:n.*2+46T>C
ENST00000643697.1:n.2003T>C
ENST00000644874.2:c.*48T>C	ENSP00000496360.1:n.*48T>C
ENST00000216361.8:c.*48T>C	ENSP00000216361.4:n.*48T>C
ENST00000396618.7:c.*48T>C	ENSP00000379862.3:n.*48T>C
ENST00000460581.6:c.*48T>C	ENSP00000451713.1:n.*48T>C
ENST00000468826.2:c.1352T>C
ENST00000475087.5:c.1477+3527T>C	ENSP00000451528.1:n.1477+3527T>C
NM_001135058.1:c.*48T>C	NP_001128530.1:n.*48T>C
NM_004086.2:c.*48T>C	NP_004077.1:n.*48T>C
XM_011536539.1:c.*2+46T>C	XP_011534841.1:n.*2+46T>C
NM_001347720.1:c.*48T>C	NP_001334649.1:n.*48T>C
XM_017021071.1:c.*48T>C	XP_016876560.1:n.*48T>C
XM_024449506.1:c.*48T>C	XP_024305274.1:n.*48T>C
NM_004086.3:c.*48T>C MANE Select	NP_004077.1:n.*48T>C
NM_001135058.2:c.*48T>C	NP_001128530.1:n.*48T>C
NM_001347720.2:c.*48T>C	NP_001334649.1:n.*48T>C