Canonical Allele Identifier: CA258536485

Gene: COCH

Linked Data

• dbSNP Id: rs544425146
• gnomAD v3: 14-30878738-C-T
• gnomAD v4: 14-30878738-C-T
• MyVariant Identifiers: chr14:g.31347944C>T (hg19) ; chr14:g.30878738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878738C>T , CM000676.2:g.30878738C>T	GRCh38
NC_000014.8:g.31347944C>T , CM000676.1:g.31347944C>T	GRCh37
NC_000014.7:g.30417695C>T	NCBI36
NG_008211.2:g.9204C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.435-73C>T	ENSP00000216361.5:n.435-73C>T
ENST00000396618.9:c.240-73C>T MANE Select	ENSP00000379862.3:n.240-73C>T
ENST00000555117.2:c.240-73C>T	ENSP00000493569.1:n.240-73C>T
ENST00000643575.1:c.240-73C>T	ENSP00000494838.1:n.240-73C>T
ENST00000643697.1:n.485-73C>T
ENST00000644874.2:c.240-73C>T	ENSP00000496360.1:n.240-73C>T
ENST00000216361.8:c.240-73C>T	ENSP00000216361.4:n.240-73C>T
ENST00000396618.7:c.240-73C>T	ENSP00000379862.3:n.240-73C>T
ENST00000460581.6:c.-97-73C>T	ENSP00000451713.1:n.-97-73C>T
ENST00000475087.5:c.240-73C>T	ENSP00000451528.1:n.240-73C>T
ENST00000553772.5:c.239+1010C>T	ENSP00000452343.1:n.239+1010C>T
ENST00000553833.5:n.394-73C>T
ENST00000555881.5:c.83-1714C>T	ENSP00000452569.1:n.83-1714C>T
ENST00000556908.5:c.192-73C>T	ENSP00000452541.1:n.192-73C>T
ENST00000557065.1:c.156-685C>T	ENSP00000451629.1:n.156-685C>T
NM_001135058.1:c.240-73C>T	NP_001128530.1:n.240-73C>T
NM_004086.2:c.240-73C>T	NP_004077.1:n.240-73C>T
NR_038356.1:n.1618-2186G>A
XM_011536539.1:c.240-73C>T	XP_011534841.1:n.240-73C>T
NM_001347720.1:c.435-73C>T	NP_001334649.1:n.435-73C>T
XM_017021071.1:c.435-73C>T	XP_016876560.1:n.435-73C>T
XM_024449506.1:c.240-73C>T	XP_024305274.1:n.240-73C>T
NM_004086.3:c.240-73C>T MANE Select	NP_004077.1:n.240-73C>T
NM_001135058.2:c.240-73C>T	NP_001128530.1:n.240-73C>T
NM_001347720.2:c.435-73C>T	NP_001334649.1:n.435-73C>T