Canonical Allele Identifier: CA258536821

Gene: COCH

Linked Data

• dbSNP Id: rs185658727
• gnomAD v2: 14-31348400-C-T
• gnomAD v3: 14-30879194-C-T
• gnomAD v4: 14-30879194-C-T
• MyVariant Identifiers: chr14:g.31348400C>T (hg19) ; chr14:g.30879194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879194C>T , CM000676.2:g.30879194C>T	GRCh38
NC_000014.8:g.31348400C>T , CM000676.1:g.31348400C>T	GRCh37
NC_000014.7:g.30418151C>T	NCBI36
NG_008211.2:g.9660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.569-229C>T	ENSP00000216361.5:n.569-229C>T
ENST00000396618.9:c.374-229C>T MANE Select	ENSP00000379862.3:n.374-229C>T
ENST00000555117.2:c.374-229C>T	ENSP00000493569.1:n.374-229C>T
ENST00000643575.1:c.374-229C>T	ENSP00000494838.1:n.374-229C>T
ENST00000643697.1:n.619-229C>T
ENST00000644874.2:c.374-229C>T	ENSP00000496360.1:n.374-229C>T
ENST00000216361.8:c.374-229C>T	ENSP00000216361.4:n.374-229C>T
ENST00000396618.7:c.374-229C>T	ENSP00000379862.3:n.374-229C>T
ENST00000460581.6:c.38-229C>T	ENSP00000451713.1:n.38-229C>T
ENST00000475087.5:c.374-229C>T	ENSP00000451528.1:n.374-229C>T
ENST00000553772.5:c.240-1258C>T	ENSP00000452343.1:n.240-1258C>T
ENST00000553833.5:n.528-229C>T
ENST00000555881.5:c.83-1258C>T	ENSP00000452569.1:n.83-1258C>T
ENST00000556908.5:c.326-229C>T	ENSP00000452541.1:n.326-229C>T
ENST00000557065.1:c.156-229C>T	ENSP00000451629.1:n.156-229C>T
NM_001135058.1:c.374-229C>T	NP_001128530.1:n.374-229C>T
NM_004086.2:c.374-229C>T	NP_004077.1:n.374-229C>T
NR_038356.1:n.1618-2642G>A
XM_011536539.1:c.374-229C>T	XP_011534841.1:n.374-229C>T
NM_001347720.1:c.569-229C>T	NP_001334649.1:n.569-229C>T
XM_017021071.1:c.569-229C>T	XP_016876560.1:n.569-229C>T
XM_024449506.1:c.374-229C>T	XP_024305274.1:n.374-229C>T
NM_004086.3:c.374-229C>T MANE Select	NP_004077.1:n.374-229C>T
NM_001135058.2:c.374-229C>T	NP_001128530.1:n.374-229C>T
NM_001347720.2:c.569-229C>T	NP_001334649.1:n.569-229C>T