Canonical Allele Identifier: CA389349750

Gene: COCH

Linked Data

• dbSNP Id: rs1322811441
• gnomAD v2: 14-31358974-G-T
• gnomAD v3: 14-30889768-G-T
• gnomAD v4: 14-30889768-G-T
• MyVariant Identifiers: chr14:g.31358974G>T (hg19) ; chr14:g.30889768G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889768G>T , CM000676.2:g.30889768G>T	GRCh38
NC_000014.8:g.31358974G>T , CM000676.1:g.31358974G>T	GRCh37
NC_000014.7:g.30428725G>T	NCBI36
NG_008211.2:g.20234G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216361.9:c.1825G>T	ENSP00000216361.5:p.Asp609Tyr
ENST00000396618.9:c.1630G>T MANE Select	ENSP00000379862.3:p.Asp544Tyr
ENST00000555117.2:c.1534+3456G>T	ENSP00000493569.1:n.1534+3456G>T
ENST00000643575.1:c.1630G>T	ENSP00000494838.1:p.Asp544Tyr
ENST00000643697.1:n.1932G>T
ENST00000644874.2:c.1630G>T	ENSP00000496360.1:p.Asp544Tyr
ENST00000216361.8:c.1630G>T	ENSP00000216361.4:p.Asp544Tyr
ENST00000396618.7:c.1630G>T	ENSP00000379862.3:p.Asp544Tyr
ENST00000460581.6:c.1294G>T	ENSP00000451713.1:p.Asp432Tyr
ENST00000468826.2:c.1281G>T
ENST00000475087.5:c.1477+3456G>T	ENSP00000451528.1:n.1477+3456G>T
NM_001135058.1:c.1630G>T	NP_001128530.1:p.Asp544Tyr
NM_004086.2:c.1630G>T	NP_004077.1:p.Asp544Tyr
NR_038356.1:n.41C>A
XM_011536539.1:c.1630G>T	XP_011534841.1:p.Asp544Tyr
NM_001347720.1:c.1825G>T	NP_001334649.1:p.Asp609Tyr
XM_017021071.1:c.1825G>T	XP_016876560.1:p.Asp609Tyr
XM_024449506.1:c.1687G>T	XP_024305274.1:p.Asp563Tyr
NM_004086.3:c.1630G>T MANE Select	NP_004077.1:p.Asp544Tyr
NM_001135058.2:c.1630G>T	NP_001128530.1:p.Asp544Tyr
NM_001347720.2:c.1825G>T	NP_001334649.1:p.Asp609Tyr