Canonical Allele Identifier: CA389348429

Gene: COCH

Linked Data

• dbSNP Id: rs1895777834
• gnomAD v3: 14-30886003-G-T
• gnomAD v4: 14-30886003-G-T
• MyVariant Identifiers: chr14:g.31355209G>T (hg19) ; chr14:g.30886003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30886003G>T , CM000676.2:g.30886003G>T	GRCh38
NC_000014.8:g.31355209G>T , CM000676.1:g.31355209G>T	GRCh37
NC_000014.7:g.30424960G>T	NCBI36
NG_008211.2:g.16469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1363G>T	ENSP00000216361.5:p.Val455Phe
ENST00000396618.9:c.1168G>T MANE Select	ENSP00000379862.3:p.Val390Phe
ENST00000555117.2:c.1225G>T	ENSP00000493569.1:p.Val409Phe
ENST00000643575.1:c.1168G>T	ENSP00000494838.1:p.Val390Phe
ENST00000643697.1:n.1470G>T
ENST00000644874.2:c.1168G>T	ENSP00000496360.1:p.Val390Phe
ENST00000216361.8:c.1168G>T	ENSP00000216361.4:p.Val390Phe
ENST00000396618.7:c.1168G>T	ENSP00000379862.3:p.Val390Phe
ENST00000460581.6:c.832G>T	ENSP00000451713.1:p.Val278Phe
ENST00000468826.2:c.819G>T
ENST00000475087.5:c.1168G>T	ENSP00000451528.1:p.Val390Phe
NM_001135058.1:c.1168G>T	NP_001128530.1:p.Val390Phe
NM_004086.2:c.1168G>T	NP_004077.1:p.Val390Phe
NR_038356.1:n.862C>A
XM_011536539.1:c.1168G>T	XP_011534841.1:p.Val390Phe
NM_001347720.1:c.1363G>T	NP_001334649.1:p.Val455Phe
XM_017021071.1:c.1363G>T	XP_016876560.1:p.Val455Phe
XM_024449506.1:c.1225G>T	XP_024305274.1:p.Val409Phe
NM_004086.3:c.1168G>T MANE Select	NP_004077.1:p.Val390Phe
NM_001135058.2:c.1168G>T	NP_001128530.1:p.Val390Phe
NM_001347720.2:c.1363G>T	NP_001334649.1:p.Val455Phe