Canonical Allele Identifier: CA389349557

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31358881G>A (hg19) ; chr14:g.30889675G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889675G>A , CM000676.2:g.30889675G>A	GRCh38
NC_000014.8:g.31358881G>A , CM000676.1:g.31358881G>A	GRCh37
NC_000014.7:g.30428632G>A	NCBI36
NG_008211.2:g.20141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1732G>A	ENSP00000216361.5:p.Ala578Thr
ENST00000396618.9:c.1537G>A MANE Select	ENSP00000379862.3:p.Ala513Thr
ENST00000555117.2:c.1534+3363G>A	ENSP00000493569.1:n.1534+3363G>A
ENST00000643575.1:c.1537G>A	ENSP00000494838.1:p.Ala513Thr
ENST00000643697.1:n.1839G>A
ENST00000644874.2:c.1537G>A	ENSP00000496360.1:p.Ala513Thr
ENST00000216361.8:c.1537G>A	ENSP00000216361.4:p.Ala513Thr
ENST00000396618.7:c.1537G>A	ENSP00000379862.3:p.Ala513Thr
ENST00000460581.6:c.1201G>A	ENSP00000451713.1:p.Ala401Thr
ENST00000468826.2:c.1188G>A
ENST00000475087.5:c.1477+3363G>A	ENSP00000451528.1:n.1477+3363G>A
NM_001135058.1:c.1537G>A	NP_001128530.1:p.Ala513Thr
NM_004086.2:c.1537G>A	NP_004077.1:p.Ala513Thr
NR_038356.1:n.134C>T
XM_011536539.1:c.1537G>A	XP_011534841.1:p.Ala513Thr
NM_001347720.1:c.1732G>A	NP_001334649.1:p.Ala578Thr
XM_017021071.1:c.1732G>A	XP_016876560.1:p.Ala578Thr
XM_024449506.1:c.1594G>A	XP_024305274.1:p.Ala532Thr
NM_004086.3:c.1537G>A MANE Select	NP_004077.1:p.Ala513Thr
NM_001135058.2:c.1537G>A	NP_001128530.1:p.Ala513Thr
NM_001347720.2:c.1732G>A	NP_001334649.1:p.Ala578Thr