Canonical Allele Identifier: CA389344578

Gene: COCH

Linked Data

• gnomAD v4: 14-30878852-G-A
• MyVariant Identifiers: chr14:g.31348058G>A (hg19) ; chr14:g.30878852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878852G>A , CM000676.2:g.30878852G>A	GRCh38
NC_000014.8:g.31348058G>A , CM000676.1:g.31348058G>A	GRCh37
NC_000014.7:g.30417809G>A	NCBI36
NG_008211.2:g.9318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.476G>A	ENSP00000216361.5:p.Ser159Asn
ENST00000396618.9:c.281G>A MANE Select	ENSP00000379862.3:p.Ser94Asn
ENST00000555117.2:c.281G>A	ENSP00000493569.1:p.Ser94Asn
ENST00000643575.1:c.281G>A	ENSP00000494838.1:p.Ser94Asn
ENST00000643697.1:n.526G>A
ENST00000644874.2:c.281G>A	ENSP00000496360.1:p.Ser94Asn
ENST00000216361.8:c.281G>A	ENSP00000216361.4:p.Ser94Asn
ENST00000396618.7:c.281G>A	ENSP00000379862.3:p.Ser94Asn
ENST00000460581.6:c.-56G>A	ENSP00000451713.1:n.-56G>A
ENST00000475087.5:c.281G>A	ENSP00000451528.1:p.Ser94Asn
ENST00000553772.5:c.239+1124G>A	ENSP00000452343.1:n.239+1124G>A
ENST00000553833.5:n.435G>A
ENST00000555881.5:c.83-1600G>A	ENSP00000452569.1:n.83-1600G>A
ENST00000556908.5:c.233G>A	ENSP00000452541.1:p.Ser78Asn
ENST00000557065.1:c.156-571G>A	ENSP00000451629.1:n.156-571G>A
NM_001135058.1:c.281G>A	NP_001128530.1:p.Ser94Asn
NM_004086.2:c.281G>A	NP_004077.1:p.Ser94Asn
NR_038356.1:n.1618-2300C>T
XM_011536539.1:c.281G>A	XP_011534841.1:p.Ser94Asn
NM_001347720.1:c.476G>A	NP_001334649.1:p.Ser159Asn
XM_017021071.1:c.476G>A	XP_016876560.1:p.Ser159Asn
XM_024449506.1:c.281G>A	XP_024305274.1:p.Ser94Asn
NM_004086.3:c.281G>A MANE Select	NP_004077.1:p.Ser94Asn
NM_001135058.2:c.281G>A	NP_001128530.1:p.Ser94Asn
NM_001347720.2:c.476G>A	NP_001334649.1:p.Ser159Asn