Canonical Allele Identifier: CA485828976

Gene: COCH

Linked Data

• gnomAD v4: 14-30878841-A-G
• MyVariant Identifiers: chr14:g.31348047A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878841A>G , CM000676.2:g.30878841A>G	GRCh38
NC_000014.8:g.31348047A>G , CM000676.1:g.31348047A>G	GRCh37
NC_000014.7:g.30417798A>G	NCBI36
NG_008211.2:g.9307A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.465A>G	ENSP00000216361.5:p.Val155=
ENST00000396618.9:c.270A>G MANE Select	ENSP00000379862.3:p.Val90=
ENST00000555117.2:c.270A>G	ENSP00000493569.1:p.Val90=
ENST00000643575.1:c.270A>G	ENSP00000494838.1:p.Val90=
ENST00000643697.1:n.515A>G
ENST00000644874.2:c.270A>G	ENSP00000496360.1:p.Val90=
ENST00000216361.8:c.270A>G	ENSP00000216361.4:p.Val90=
ENST00000396618.7:c.270A>G	ENSP00000379862.3:p.Val90=
ENST00000460581.6:c.-67A>G	ENSP00000451713.1:n.-67A>G
ENST00000475087.5:c.270A>G	ENSP00000451528.1:p.Val90=
ENST00000553772.5:c.239+1113A>G	ENSP00000452343.1:n.239+1113A>G
ENST00000553833.5:n.424A>G
ENST00000555881.5:c.83-1611A>G	ENSP00000452569.1:n.83-1611A>G
ENST00000556908.5:c.222A>G	ENSP00000452541.1:p.Val74=
ENST00000557065.1:c.156-582A>G	ENSP00000451629.1:n.156-582A>G
NM_001135058.1:c.270A>G	NP_001128530.1:p.Val90=
NM_004086.2:c.270A>G	NP_004077.1:p.Val90=
NR_038356.1:n.1618-2289T>C
XM_011536539.1:c.270A>G	XP_011534841.1:p.Val90=
NM_001347720.1:c.465A>G	NP_001334649.1:p.Val155=
XM_017021071.1:c.465A>G	XP_016876560.1:p.Val155=
XM_024449506.1:c.270A>G	XP_024305274.1:p.Val90=
NM_004086.3:c.270A>G MANE Select	NP_004077.1:p.Val90=
NM_001135058.2:c.270A>G	NP_001128530.1:p.Val90=
NM_001347720.2:c.465A>G	NP_001334649.1:p.Val155=