Canonical Allele Identifier: CA7142951

Gene: COCH

Linked Data

• ClinVar Variation Id: 286749
• ClinVar RCV Id: RCV000348246
• dbSNP Id: rs28400029
• ExAC: 14:31346893 A / T
• gnomAD v2: 14-31346893-A-T
• gnomAD v3: 14-30877687-A-T
• gnomAD v4: 14-30877687-A-T
• MyVariant Identifiers: chr14:g.31346893A>T (hg19) ; chr14:g.30877687A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30877687A>T , CM000676.2:g.30877687A>T	GRCh38
NC_000014.8:g.31346893A>T , CM000676.1:g.31346893A>T	GRCh37
NC_000014.7:g.30416644A>T	NCBI36
NG_008211.2:g.8153A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.393A>T	ENSP00000216361.5:p.Val131=
ENST00000396618.9:c.198A>T MANE Select	ENSP00000379862.3:p.Val66=
ENST00000555117.2:c.198A>T	ENSP00000493569.1:p.Val66=
ENST00000643575.1:c.198A>T	ENSP00000494838.1:p.Val66=
ENST00000643697.1:n.443A>T
ENST00000644874.2:c.198A>T	ENSP00000496360.1:p.Val66=
ENST00000216361.8:c.198A>T	ENSP00000216361.4:p.Val66=
ENST00000396618.7:c.198A>T	ENSP00000379862.3:p.Val66=
ENST00000460581.6:c.-139A>T	ENSP00000451713.1:n.-139A>T
ENST00000475087.5:c.198A>T	ENSP00000451528.1:p.Val66=
ENST00000553772.5:c.198A>T	ENSP00000452343.1:p.Val66=
ENST00000553833.5:n.352A>T
ENST00000555881.5:c.82+2584A>T	ENSP00000452569.1:n.82+2584A>T
ENST00000556908.5:c.150A>T	ENSP00000452541.1:p.Val50=
ENST00000557065.1:c.114A>T	ENSP00000451629.1:p.Val38=
NM_001135058.1:c.198A>T	NP_001128530.1:p.Val66=
NM_004086.2:c.198A>T	NP_004077.1:p.Val66=
NR_038356.1:n.1618-1135T>A
XM_011536539.1:c.198A>T	XP_011534841.1:p.Val66=
NM_001347720.1:c.393A>T	NP_001334649.1:p.Val131=
XM_017021071.1:c.393A>T	XP_016876560.1:p.Val131=
XM_024449506.1:c.198A>T	XP_024305274.1:p.Val66=
NM_004086.3:c.198A>T MANE Select	NP_004077.1:p.Val66=
NM_001135058.2:c.198A>T	NP_001128530.1:p.Val66=
NM_001347720.2:c.393A>T	NP_001334649.1:p.Val131=