Canonical Allele Identifier: CA258536580

Gene: COCH

Linked Data

• dbSNP Id: rs188283330
• gnomAD v2: 14-31348049-G-T
• gnomAD v3: 14-30878843-G-T
• gnomAD v4: 14-30878843-G-T
• MyVariant Identifiers: chr14:g.31348049G>T (hg19) ; chr14:g.30878843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878843G>T , CM000676.2:g.30878843G>T	GRCh38
NC_000014.8:g.31348049G>T , CM000676.1:g.31348049G>T	GRCh37
NC_000014.7:g.30417800G>T	NCBI36
NG_008211.2:g.9309G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.467G>T	ENSP00000216361.5:p.Arg156Leu
ENST00000396618.9:c.272G>T MANE Select	ENSP00000379862.3:p.Arg91Leu
ENST00000555117.2:c.272G>T	ENSP00000493569.1:p.Arg91Leu
ENST00000643575.1:c.272G>T	ENSP00000494838.1:p.Arg91Leu
ENST00000643697.1:n.517G>T
ENST00000644874.2:c.272G>T	ENSP00000496360.1:p.Arg91Leu
ENST00000216361.8:c.272G>T	ENSP00000216361.4:p.Arg91Leu
ENST00000396618.7:c.272G>T	ENSP00000379862.3:p.Arg91Leu
ENST00000460581.6:c.-65G>T	ENSP00000451713.1:n.-65G>T
ENST00000475087.5:c.272G>T	ENSP00000451528.1:p.Arg91Leu
ENST00000553772.5:c.239+1115G>T	ENSP00000452343.1:n.239+1115G>T
ENST00000553833.5:n.426G>T
ENST00000555881.5:c.83-1609G>T	ENSP00000452569.1:n.83-1609G>T
ENST00000556908.5:c.224G>T	ENSP00000452541.1:p.Arg75Leu
ENST00000557065.1:c.156-580G>T	ENSP00000451629.1:n.156-580G>T
NM_001135058.1:c.272G>T	NP_001128530.1:p.Arg91Leu
NM_004086.2:c.272G>T	NP_004077.1:p.Arg91Leu
NR_038356.1:n.1618-2291C>A
XM_011536539.1:c.272G>T	XP_011534841.1:p.Arg91Leu
NM_001347720.1:c.467G>T	NP_001334649.1:p.Arg156Leu
XM_017021071.1:c.467G>T	XP_016876560.1:p.Arg156Leu
XM_024449506.1:c.272G>T	XP_024305274.1:p.Arg91Leu
NM_004086.3:c.272G>T MANE Select	NP_004077.1:p.Arg91Leu
NM_001135058.2:c.272G>T	NP_001128530.1:p.Arg91Leu
NM_001347720.2:c.467G>T	NP_001334649.1:p.Arg156Leu