Canonical Allele Identifier: CA389347377

Gene: COCH

Linked Data

• MyVariant Identifiers: chr14:g.31354614C>A (hg19) ; chr14:g.30885408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885408C>A , CM000676.2:g.30885408C>A	GRCh38
NC_000014.8:g.31354614C>A , CM000676.1:g.31354614C>A	GRCh37
NC_000014.7:g.30424365C>A	NCBI36
NG_008211.2:g.15874C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.943C>A	ENSP00000216361.5:p.His315Asn
ENST00000396618.9:c.748C>A MANE Select	ENSP00000379862.3:p.His250Asn
ENST00000555117.2:c.805C>A	ENSP00000493569.1:p.His269Asn
ENST00000643575.1:c.748C>A	ENSP00000494838.1:p.His250Asn
ENST00000643697.1:n.1050C>A
ENST00000644874.2:c.748C>A	ENSP00000496360.1:p.His250Asn
ENST00000216361.8:c.748C>A	ENSP00000216361.4:p.His250Asn
ENST00000396618.7:c.748C>A	ENSP00000379862.3:p.His250Asn
ENST00000460581.6:c.412C>A	ENSP00000451713.1:p.His138Asn
ENST00000468826.2:c.399C>A
ENST00000475087.5:c.748C>A	ENSP00000451528.1:p.His250Asn
ENST00000555881.5:c.394C>A	ENSP00000452569.1:p.His132Asn
ENST00000557065.1:c.530C>A	ENSP00000451629.1:n.530C>A
NM_001135058.1:c.748C>A	NP_001128530.1:p.His250Asn
NM_004086.2:c.748C>A	NP_004077.1:p.His250Asn
NR_038356.1:n.1452+5G>T
XM_011536539.1:c.748C>A	XP_011534841.1:p.His250Asn
NM_001347720.1:c.943C>A	NP_001334649.1:p.His315Asn
XM_017021071.1:c.943C>A	XP_016876560.1:p.His315Asn
XM_024449506.1:c.805C>A	XP_024305274.1:p.His269Asn
NM_004086.3:c.748C>A MANE Select	NP_004077.1:p.His250Asn
NM_001135058.2:c.748C>A	NP_001128530.1:p.His250Asn
NM_001347720.2:c.943C>A	NP_001334649.1:p.His315Asn