Canonical Allele Identifier: CA389344557

Gene: COCH

Linked Data

• gnomAD v4: 14-30878840-T-A
• MyVariant Identifiers: chr14:g.31348046T>A (hg19) ; chr14:g.30878840T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878840T>A , CM000676.2:g.30878840T>A	GRCh38
NC_000014.8:g.31348046T>A , CM000676.1:g.31348046T>A	GRCh37
NC_000014.7:g.30417797T>A	NCBI36
NG_008211.2:g.9306T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.464T>A	ENSP00000216361.5:p.Val155Glu
ENST00000396618.9:c.269T>A MANE Select	ENSP00000379862.3:p.Val90Glu
ENST00000555117.2:c.269T>A	ENSP00000493569.1:p.Val90Glu
ENST00000643575.1:c.269T>A	ENSP00000494838.1:p.Val90Glu
ENST00000643697.1:n.514T>A
ENST00000644874.2:c.269T>A	ENSP00000496360.1:p.Val90Glu
ENST00000216361.8:c.269T>A	ENSP00000216361.4:p.Val90Glu
ENST00000396618.7:c.269T>A	ENSP00000379862.3:p.Val90Glu
ENST00000460581.6:c.-68T>A	ENSP00000451713.1:n.-68T>A
ENST00000475087.5:c.269T>A	ENSP00000451528.1:p.Val90Glu
ENST00000553772.5:c.239+1112T>A	ENSP00000452343.1:n.239+1112T>A
ENST00000553833.5:n.423T>A
ENST00000555881.5:c.83-1612T>A	ENSP00000452569.1:n.83-1612T>A
ENST00000556908.5:c.221T>A	ENSP00000452541.1:p.Val74Glu
ENST00000557065.1:c.156-583T>A	ENSP00000451629.1:n.156-583T>A
NM_001135058.1:c.269T>A	NP_001128530.1:p.Val90Glu
NM_004086.2:c.269T>A	NP_004077.1:p.Val90Glu
NR_038356.1:n.1618-2288A>T
XM_011536539.1:c.269T>A	XP_011534841.1:p.Val90Glu
NM_001347720.1:c.464T>A	NP_001334649.1:p.Val155Glu
XM_017021071.1:c.464T>A	XP_016876560.1:p.Val155Glu
XM_024449506.1:c.269T>A	XP_024305274.1:p.Val90Glu
NM_004086.3:c.269T>A MANE Select	NP_004077.1:p.Val90Glu
NM_001135058.2:c.269T>A	NP_001128530.1:p.Val90Glu
NM_001347720.2:c.464T>A	NP_001334649.1:p.Val155Glu