Canonical Allele Identifier: CA485833958

Gene: COCH

Linked Data

• dbSNP Id: rs1361098558
• gnomAD v2: 14-31358762-A-G
• gnomAD v3: 14-30889556-A-G
• gnomAD v4: 14-30889556-A-G
• MyVariant Identifiers: chr14:g.31358762A>G (hg19) ; chr14:g.30889556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889556A>G , CM000676.2:g.30889556A>G	GRCh38
NC_000014.8:g.31358762A>G , CM000676.1:g.31358762A>G	GRCh37
NC_000014.7:g.30428513A>G	NCBI36
NG_008211.2:g.20022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1673-60A>G	ENSP00000216361.5:n.1673-60A>G
ENST00000396618.9:c.1478-60A>G MANE Select	ENSP00000379862.3:n.1478-60A>G
ENST00000555117.2:c.1534+3244A>G	ENSP00000493569.1:n.1534+3244A>G
ENST00000643575.1:c.1478-60A>G	ENSP00000494838.1:n.1478-60A>G
ENST00000643697.1:n.1780-60A>G
ENST00000644874.2:c.1478-60A>G	ENSP00000496360.1:n.1478-60A>G
ENST00000216361.8:c.1478-60A>G	ENSP00000216361.4:n.1478-60A>G
ENST00000396618.7:c.1478-60A>G	ENSP00000379862.3:n.1478-60A>G
ENST00000460581.6:c.1142-60A>G	ENSP00000451713.1:n.1142-60A>G
ENST00000468826.2:c.1129-60A>G
ENST00000475087.5:c.1477+3244A>G	ENSP00000451528.1:n.1477+3244A>G
NM_001135058.1:c.1478-60A>G	NP_001128530.1:n.1478-60A>G
NM_004086.2:c.1478-60A>G	NP_004077.1:n.1478-60A>G
NR_038356.1:n.253T>C
XM_011536539.1:c.1478-60A>G	XP_011534841.1:n.1478-60A>G
NM_001347720.1:c.1673-60A>G	NP_001334649.1:n.1673-60A>G
XM_017021071.1:c.1673-60A>G	XP_016876560.1:n.1673-60A>G
XM_024449506.1:c.1535-60A>G	XP_024305274.1:n.1535-60A>G
NM_004086.3:c.1478-60A>G MANE Select	NP_004077.1:n.1478-60A>G
NM_001135058.2:c.1478-60A>G	NP_001128530.1:n.1478-60A>G
NM_001347720.2:c.1673-60A>G	NP_001334649.1:n.1673-60A>G