Canonical Allele Identifier: CA7143228

Gene: COCH

Linked Data

• ClinVar Variation Id: 1288779
• ClinVar RCV Id: RCV001709226
• dbSNP Id: rs28362776
• ExAC: 14:31354967 C / T
• gnomAD v2: 14-31354967-C-T
• gnomAD v3: 14-30885761-C-T
• gnomAD v4: 14-30885761-C-T
• MyVariant Identifiers: chr14:g.31354967C>T (hg19) ; chr14:g.30885761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885761C>T , CM000676.2:g.30885761C>T	GRCh38
NC_000014.8:g.31354967C>T , CM000676.1:g.31354967C>T	GRCh37
NC_000014.7:g.30424718C>T	NCBI36
NG_008211.2:g.16227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1156-35C>T	ENSP00000216361.5:n.1156-35C>T
ENST00000396618.9:c.961-35C>T MANE Select	ENSP00000379862.3:n.961-35C>T
ENST00000555117.2:c.1018-35C>T	ENSP00000493569.1:n.1018-35C>T
ENST00000643575.1:c.961-35C>T	ENSP00000494838.1:n.961-35C>T
ENST00000643697.1:n.1263-35C>T
ENST00000644874.2:c.961-35C>T	ENSP00000496360.1:n.961-35C>T
ENST00000216361.8:c.961-35C>T	ENSP00000216361.4:n.961-35C>T
ENST00000396618.7:c.961-35C>T	ENSP00000379862.3:n.961-35C>T
ENST00000460581.6:c.625-35C>T	ENSP00000451713.1:n.625-35C>T
ENST00000468826.2:c.612-35C>T
ENST00000475087.5:c.961-35C>T	ENSP00000451528.1:n.961-35C>T
NM_001135058.1:c.961-35C>T	NP_001128530.1:n.961-35C>T
NM_004086.2:c.961-35C>T	NP_004077.1:n.961-35C>T
NR_038356.1:n.1104G>A
XM_011536539.1:c.961-35C>T	XP_011534841.1:n.961-35C>T
NM_001347720.1:c.1156-35C>T	NP_001334649.1:n.1156-35C>T
XM_017021071.1:c.1156-35C>T	XP_016876560.1:n.1156-35C>T
XM_024449506.1:c.1018-35C>T	XP_024305274.1:n.1018-35C>T
NM_004086.3:c.961-35C>T MANE Select	NP_004077.1:n.961-35C>T
NM_001135058.2:c.961-35C>T	NP_001128530.1:n.961-35C>T
NM_001347720.2:c.1156-35C>T	NP_001334649.1:n.1156-35C>T